Canonical Allele Identifier: CA2695196933

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902766_56902769delinsGTCC , CM000678.2:g.56902766_56902769delinsGTCC	GRCh38
NC_000016.9:g.56936678_56936681delinsGTCC , CM000678.1:g.56936678_56936681delinsGTCC	GRCh37
NC_000016.8:g.55494179_55494182delinsGTCC	NCBI36
NG_009386.1:g.42560_42563delinsGTCC
NG_009386.2:g.42560_42563delinsGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+258_2856+261delinsGTCC MANE Select	ENSP00000456149.2:n.2856+258_2856+261delinsGTCC
ENST00000262502.5:c.2853+258_2853+261delinsGTCC	ENSP00000262502.5:n.2853+258_2853+261delinsGTCC
ENST00000438926.6:c.2883+258_2883+261delinsGTCC	ENSP00000402152.2:n.2883+258_2883+261delinsGTCC
ENST00000563236.5:c.2856+258_2856+261delinsGTCC	ENSP00000456149.1:n.2856+258_2856+261delinsGTCC
ENST00000566786.5:c.2880+258_2880+261delinsGTCC	ENSP00000457552.1:n.2880+258_2880+261delinsGTCC
ENST00000569002.1:n.287+258_287+261delinsGTCC
NM_000339.2:c.2883+258_2883+261delinsGTCC	NP_000330.2:n.2883+258_2883+261delinsGTCC
NM_001126107.1:c.2880+258_2880+261delinsGTCC	NP_001119579.1:n.2880+258_2880+261delinsGTCC
NM_001126108.1:c.2856+258_2856+261delinsGTCC	NP_001119580.1:n.2856+258_2856+261delinsGTCC
XM_005256119.1:c.2853+258_2853+261delinsGTCC	XP_005256176.1:n.2853+258_2853+261delinsGTCC
XM_005256119.2:c.2853+258_2853+261delinsGTCC	XP_005256176.1:n.2853+258_2853+261delinsGTCC
NM_000339.3:c.2883+258_2883+261delinsGTCC	NP_000330.3:n.2883+258_2883+261delinsGTCC
NM_001126107.2:c.2880+258_2880+261delinsGTCC	NP_001119579.2:n.2880+258_2880+261delinsGTCC
NM_001126108.2:c.2856+258_2856+261delinsGTCC MANE Select	NP_001119580.2:n.2856+258_2856+261delinsGTCC