Input Warnings HGVS_transcript HGVS_RefSeqGene HGVS_LRG HGVS_LRG_transcript HGVS_Predicted_Protein HGVS_Genomic_GRCh37 GRCh37_CHR GRCh37_POS GRCh37_ID GRCh37_REF GRCh37_ALT HGVS_Genomic_GRCh38 GRCh38_CHR GRCh38_POS GRCh38_ID GRCh38_REF GRCh38_ALT Gene_Symbol HGNC_Gene_ID Transcript_description Alt_genomic_loci NM_000088.3:c.589C>T NM_000088.3:c.589C>T: Variant reference (C) does not agree with reference sequence (G) NC_000071.10:g.48275363C>A Failed to fetch NC_000071.10 from SeqRepo (/local/VariantValidator/seqrepo/2018-08-21) (Alias NC_000071.10 (namespace: None)) NG_007400.2:g.8638G>T Failed to fetch NG_007400.2 from SeqRepo (/local/VariantValidator/seqrepo/2018-08-21) (Alias NG_007400.2 (namespace: None)) LRG_1:g.8638G>N LRG_1:g.8638G>N automapped to NG_007400.1:g.8638G>N NM_000088.3:c.589G>N NG_007400.1:g.8638G>N LRG_1:g.8638G>N LRG_1t1:c.589G>N NP_000079.2(LRG_1p1):p.(Gly197Xaa) NC_000017.10:g.48275363C>N 17 48275363 . C N NC_000017.11:g.50198002C>N 17 50198002 . C N COL1A1 HGNC:2197 Homo sapiens collagen type I alpha 1 chain (COL1A1), mRNA LRG_1t3:c.589G>T No transcript definition for (tx_ac=LRG_1t3) 17-50198002-G-A NC_000017.11:g.50198002G>A: Variant reference (G) does not agree with reference sequence (C) chr17:550198002C>A NC_000017.11:g.550198002C>A: Variant reference (C) does not agree with reference sequence () COL5A1:c.5071A>T HGVS variant nomenclature does not allow the use of a gene symbol (COL5A1) in place of a valid reference sequence: Re-submit COL5A1:c.5071A>T and specify transcripts from the following: select_transcripts=NM_000093.4|NM_001278074.1|NM_000093.3 NM_000088.3:c.589GG>CT NM_000088.3:c.589GG>CT automapped to NM_000088.3:c.589_590delGGinsCT NM_000088.3:c.589_590delinsCT NG_007400.1:g.8638_8639delinsCT LRG_1:g.8638_8639delinsCT LRG_1t1:c.589_590delinsCT NP_000079.2(LRG_1p1):p.(Gly197Leu) NC_000017.10:g.48275362_48275363delinsAG 17 48275362 . CC AG NC_000017.11:g.50198001_50198002delinsAG 17 50198001 . CC AG COL1A1 HGNC:2197 Homo sapiens collagen type I alpha 1 chain (COL1A1), mRNA NM_000500.7:c.-107-19C>T Using a transcript reference sequence to specify a variant position that lies outside of the reference sequence is not HGVS-compliant. Instead re-submit NC_000006.12:g.32038297C>T