HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_018486.2:c.839_843delinsGT
RefSeqGene (:g.) NG_015851.1:g.113474_113478delinsGT
Predicted effect on protein (:p.) NP_060956.1:p.(Thr280_Pro281delinsSer)
Predicted effect on protein (:p.) NP_060956.1:p.(T280_P281delinsS)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000023.10:g.71684476_71684480delinsAC GRCh37:X:71684476:TGGAG:AC
NC_000023.11:g.72464626_72464630delinsAC GRCh38:X:72464626:TGGAG:AC
NW_004070882.1:g.153643_153647delinsAC GRCh37:HG1438_PATCH:153643:TGGAG:AC

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene NG_015851.1:g.113474_113478delinsGT
Chromosomal GRCh38 NC_000023.11:g.72464626_72464630delinsAC

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_018486.2:c.839_843delinsGT

Transcript-level variants overlapping genome coordinates NC_000023.11:72464626_72464630


Genomic coordinates (VCF) with respect to genome build GRCh38

X-72464626-TGGAG-AC


Aggregated data sources and clinical significance

VariantValidator

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