HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001001486.1:c.2335dup
RefSeqGene (:g.) NG_007379.1:g.108108dup
Predicted effect on protein (:p.) NP_001001486.1:p.(Ile779AsnfsTer19)
Predicted effect on protein (:p.) NP_001001486.1:p.(I779Nfs*19)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000003.11:g.130716541dup GRCh37:3:130716537:T:TA
NC_000003.12:g.130997697dup GRCh38:3:130997693:T:TA

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_007379.1:g.108108dup
Chromosomal GRCh38 NC_000003.12:g.130997697dup

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_001001486.1:c.2335dup

Transcript-level variants overlapping genome coordinates NC_000003.12:130997697


Genomic coordinates (VCF) with respect to genome build GRCh38

3-130997693-T-TA


Aggregated data sources and clinical significance

VariantValidator

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