Canonical Allele Identifier: CA173976

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 160371
• ClinVar RCV Id: RCV000148038 ; RCV001542540 ; RCV002291572 ; RCV003114292
• dbSNP Id: rs606231311
• gnomAD v2: 1-113460277-GATTA-G
• gnomAD v3: 1-112917655-GATTA-G
• gnomAD v4: 1-112917655-GATTA-G
• MyVariant Identifiers: chr1:g.113460278_113460281del (hg19) ; chr1:g.112917656_112917659del (hg38)
• PubMed: PMID:25390740

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917659_112917662del , CM000663.2:g.112917659_112917662del	GRCh38
NC_000001.10:g.113460281_113460284del , CM000663.1:g.113460281_113460284del	GRCh37
NC_000001.9:g.113261804_113261807del	NCBI36
NG_015880.2:g.43270_43273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.747_750del MANE Select	ENSP00000358640.4:p.Asn250SerfsTer5
ENST00000429288.2:c.747_750del	ENSP00000397106.2:p.Asn250SerfsTer5
ENST00000443580.6:c.747_750del	ENSP00000399104.2:p.Asn250SerfsTer5
ENST00000458229.6:c.747_750del	ENSP00000416167.2:p.Asn250SerfsTer5
ENST00000679803.1:c.747_750del	ENSP00000505879.1:p.Asn250SerfsTer5
ENST00000679846.1:n.1664_1667del
ENST00000369626.7:c.747_750del	ENSP00000358640.3:p.Asn250SerfsTer5
ENST00000443580.5:c.747_750del	ENSP00000399104.1:p.Asn250SerfsTer5
ENST00000458229.5:c.747_750del	ENSP00000416167.1:p.Asn250SerfsTer5
ENST00000538576.5:c.747_750del	ENSP00000441065.1:p.Asn250SerfsTer5
NM_001166496.1:c.747_750del	NP_001159968.1:p.Asn250SerfsTer5
NM_003051.3:c.747_750del	NP_003042.3:p.Asn250SerfsTer5
XM_011542026.1:c.747_750del	XP_011540328.1:p.Asn250SerfsTer5
XM_011542027.1:c.747_750del	XP_011540329.1:p.Asn250SerfsTer5
NM_003051.4:c.747_750del MANE Select	NP_003042.3:p.Asn250SerfsTer5
NM_001166496.2:c.747_750del	NP_001159968.1:p.Asn250SerfsTer5