A more recent version of the selected reference sequence NM_000518.4 is available (NM_000518.5):

Automap has added the updated variant description NM_000518.5:c.71_73del to the HGVS-compliant variants table For optimal mapping to a genomic position, we recommend submission of NM_000518.5:c.71_73del to VariantValidator NM_000518.5:c.71_73del MUST be fully validated prior to use in reports

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000518.4:c.71_73del
RefSeqGene (:g.) NG_000007.3:g.70665_70667del
Predicted effect on protein (:p.) NP_000509.1(LRG_1232p1):p.(Val24del)
Predicted effect on protein (:p.) NP_000509.1:p.(V24del)
Updated Transcript (:c.) NM_000518.5:c.71_73del
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000011.10:g.5226950_5226952del GRCh38:11:5226948:CCAA:C
NC_000011.9:g.5248180_5248182del GRCh37:11:5248178:CCAA:C

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_000007.3:g.70665_70667del
Chromosomal GRCh38 NC_000011.10:g.5226950_5226952del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000518.4:c.71_73del

Transcript-level variants overlapping genome coordinates NC_000011.10:5226950_5226952

Genomic coordinates (VCF) with respect to genome build GRCh38


Aggregated data sources and clinical significance


Select Genome Build
Alignment method: