HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001128590.3:c.833dup
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_001122062.3:p.(Leu278PhefsTer6)
Predicted effect on protein (:p.) NP_001122062.3:p.(L278Ffs*6)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000006.11:g.32007966dup GRCh37:6:32007959:G:GT
NC_000006.12:g.32040189dup GRCh38:6:32040182:G:GT
NT_113891.2:g.3478617dup GRCh37:HSCHR6_MHC_COX_CTG1:3478610:G:GT
NT_113891.3:g.3478511dup GRCh38:HSCHR6_MHC_COX_CTG1:3478504:G:GT
NT_167245.1:g.3287182dup GRCh37:HSCHR6_MHC_DBB_CTG1:3287175:G:GT
NT_167245.2:g.3281597dup GRCh38:HSCHR6_MHC_DBB_CTG1:3281590:G:GT
NT_167247.1:g.3387807dup GRCh37:HSCHR6_MHC_MCF_CTG1:3387800:G:GT
NT_167247.2:g.3382222dup GRCh38:HSCHR6_MHC_MCF_CTG1:3382215:G:GT
NT_167249.1:g.3340674dup GRCh37:HSCHR6_MHC_SSTO_CTG1:3340667:G:GT
NT_167249.2:g.3341376dup GRCh38:HSCHR6_MHC_SSTO_CTG1:3341369:G:GT

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 RefSeqGene record not available
Chromosomal GRCh38 NC_000006.12:g.32040189dup

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_001128590.3:c.833dup

Unable to provide variant descriptions with respect to the RefSeqGene sequence because:

  • No RefSeqGene has been created for the CYP21A2 gene;
  • Or, Transcript NM_001128590.3 has not been annotated in the RefSeqGene record for the CYP21A2 gene

Transcript-level variants overlapping genome coordinates NC_000006.12:32040189


Genomic coordinates (VCF) with respect to genome build GRCh38

6-32040182-G-GT


Aggregated data sources and clinical significance

VariantValidator

Select Genome Build
Alignment method: