Canonical Allele Identifier: CA1011395

Gene: SLC16A1

Linked Data

• dbSNP Id: rs772457442
• ExAC: 1:113460361 T / TGAAAAAA
• gnomAD v2: 1-113460361-T-TGAAAAAA
• gnomAD v3: 1-112917739-T-TGAAAAAA
• gnomAD v4: 1-112917739-T-TGAAAAAA
• MyVariant Identifiers: chr1:g.113460361_113460362insGAAAAAA (hg19) ; chr1:g.112917739_112917740insGAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917739_112917740insGAAAAAA , CM000663.2:g.112917739_112917740insGAAAAAA	GRCh38
NC_000001.10:g.113460361_113460362insGAAAAAA , CM000663.1:g.113460361_113460362insGAAAAAA	GRCh37
NC_000001.9:g.113261884_113261885insGAAAAAA	NCBI36
NG_015880.2:g.43189_43190insTTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.666_667insTTTTTTC MANE Select	ENSP00000358640.4:p.Lys223PhefsTer8
ENST00000429288.2:c.666_667insTTTTTTC	ENSP00000397106.2:p.Lys223PhefsTer8
ENST00000443580.6:c.666_667insTTTTTTC	ENSP00000399104.2:p.Lys223PhefsTer8
ENST00000458229.6:c.666_667insTTTTTTC	ENSP00000416167.2:p.Lys223PhefsTer8
ENST00000679803.1:c.666_667insTTTTTTC	ENSP00000505879.1:p.Lys223PhefsTer8
ENST00000679846.1:n.1583_1584insTTTTTTC
ENST00000369626.7:c.666_667insTTTTTTC	ENSP00000358640.3:p.Lys223PhefsTer8
ENST00000443580.5:c.666_667insTTTTTTC	ENSP00000399104.1:p.Lys223PhefsTer8
ENST00000458229.5:c.666_667insTTTTTTC	ENSP00000416167.1:p.Lys223PhefsTer8
ENST00000538576.5:c.666_667insTTTTTTC	ENSP00000441065.1:p.Lys223PhefsTer8
NM_001166496.1:c.666_667insTTTTTTC	NP_001159968.1:p.Lys223PhefsTer8
NM_003051.3:c.666_667insTTTTTTC	NP_003042.3:p.Lys223PhefsTer8
XM_011542026.1:c.666_667insTTTTTTC	XP_011540328.1:p.Lys223PhefsTer8
XM_011542027.1:c.666_667insTTTTTTC	XP_011540329.1:p.Lys223PhefsTer8
NM_003051.4:c.666_667insTTTTTTC MANE Select	NP_003042.3:p.Lys223PhefsTer8
NM_001166496.2:c.666_667insTTTTTTC	NP_001159968.1:p.Lys223PhefsTer8