HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000228.2:c.3517_3518del
RefSeqGene (:g.) NG_007116.1:g.42203_42204del
Predicted effect on protein (:p.) NP_000219.2:p.(Ter1173MetextTer47)
Predicted effect on protein (:p.) NP_000219.2:p.(*1173Mext*47)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000001.10:g.209788618_209788619del GRCh37:1:209788616:TCA:T
NC_000001.11:g.209615273_209615274del GRCh38:1:209615271:TCA:T

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_007116.1:g.42203_42204del
Chromosomal GRCh38 NC_000001.11:g.209615273_209615274del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000228.2:c.3517_3518del

Transcript-level variants overlapping genome coordinates NC_000001.11:209615273_209615274


Genomic coordinates (VCF) with respect to genome build GRCh38

1-209615271-TCA-T


Aggregated data sources and clinical significance

VariantValidator

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