Canonical Allele Identifier: CA1011391

Gene: SLC16A1

Linked Data

• dbSNP Id: rs778610421
• ExAC: 1:113460355 CTTT / C
• gnomAD v2: 1-113460355-CTTT-C
• gnomAD v3: 1-112917733-CTTT-C
• gnomAD v4: 1-112917733-CTTT-C
• MyVariant Identifiers: chr1:g.113460356_113460358del (hg19) ; chr1:g.112917734_112917736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917737_112917739del , CM000663.2:g.112917737_112917739del	GRCh38
NC_000001.10:g.113460359_113460361del , CM000663.1:g.113460359_113460361del	GRCh37
NC_000001.9:g.113261882_113261884del	NCBI36
NG_015880.2:g.43193_43195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.670_672del MANE Select	ENSP00000358640.4:p.Lys224del
ENST00000429288.2:c.670_672del	ENSP00000397106.2:p.Lys224del
ENST00000443580.6:c.670_672del	ENSP00000399104.2:p.Lys224del
ENST00000458229.6:c.670_672del	ENSP00000416167.2:p.Lys224del
ENST00000679803.1:c.670_672del	ENSP00000505879.1:p.Lys224del
ENST00000679846.1:n.1587_1589del
ENST00000369626.7:c.670_672del	ENSP00000358640.3:p.Lys224del
ENST00000443580.5:c.670_672del	ENSP00000399104.1:p.Lys224del
ENST00000458229.5:c.670_672del	ENSP00000416167.1:p.Lys224del
ENST00000538576.5:c.670_672del	ENSP00000441065.1:p.Lys224del
NM_001166496.1:c.670_672del	NP_001159968.1:p.Lys224del
NM_003051.3:c.670_672del	NP_003042.3:p.Lys224del
XM_011542026.1:c.670_672del	XP_011540328.1:p.Lys224del
XM_011542027.1:c.670_672del	XP_011540329.1:p.Lys224del
NM_003051.4:c.670_672del MANE Select	NP_003042.3:p.Lys224del
NM_001166496.2:c.670_672del	NP_001159968.1:p.Lys224del