Canonical Allele Identifier: CA281520029

Gene: SLC12A3

Linked Data

• dbSNP Id: rs796072044

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902777_56902780delinsT , CM000678.2:g.56902777_56902780delinsT	GRCh38
NC_000016.9:g.56936689_56936692delinsT , CM000678.1:g.56936689_56936692delinsT	GRCh37
NC_000016.8:g.55494190_55494193delinsT	NCBI36
NG_009386.1:g.42571_42574delinsT
NG_009386.2:g.42571_42574delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+269_2856+272delinsT MANE Select	ENSP00000456149.2:n.2856+269_2856+272delinsT
ENST00000262502.5:c.2853+269_2853+272delinsT	ENSP00000262502.5:n.2853+269_2853+272delinsT
ENST00000438926.6:c.2883+269_2883+272delinsT	ENSP00000402152.2:n.2883+269_2883+272delinsT
ENST00000563236.5:c.2856+269_2856+272delinsT	ENSP00000456149.1:n.2856+269_2856+272delinsT
ENST00000566786.5:c.2880+269_2880+272delinsT	ENSP00000457552.1:n.2880+269_2880+272delinsT
ENST00000569002.1:n.287+269_287+272delinsT
NM_000339.2:c.2883+269_2883+272delinsT	NP_000330.2:n.2883+269_2883+272delinsT
NM_001126107.1:c.2880+269_2880+272delinsT	NP_001119579.1:n.2880+269_2880+272delinsT
NM_001126108.1:c.2856+269_2856+272delinsT	NP_001119580.1:n.2856+269_2856+272delinsT
XM_005256119.1:c.2853+269_2853+272delinsT	XP_005256176.1:n.2853+269_2853+272delinsT
XM_005256119.2:c.2853+269_2853+272delinsT	XP_005256176.1:n.2853+269_2853+272delinsT
NM_000339.3:c.2883+269_2883+272delinsT	NP_000330.3:n.2883+269_2883+272delinsT
NM_001126107.2:c.2880+269_2880+272delinsT	NP_001119579.2:n.2880+269_2880+272delinsT
NM_001126108.2:c.2856+269_2856+272delinsT MANE Select	NP_001119580.2:n.2856+269_2856+272delinsT