Canonical Allele Identifier: CA2224355911

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56883578_56883580delinsCTT , CM000678.2:g.56883578_56883580delinsCTT	GRCh38
NC_000016.9:g.56917490_56917492delinsCTT , CM000678.1:g.56917490_56917492delinsCTT	GRCh37
NC_000016.8:g.55474991_55474993delinsCTT	NCBI36
NG_009386.1:g.23372_23374delinsCTT
NG_009386.2:g.23372_23374delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1670-471_1670-469delinsCTT MANE Select	ENSP00000456149.2:n.1670-471_1670-469delinsCTT
ENST00000262502.5:c.1667-471_1667-469delinsCTT	ENSP00000262502.5:n.1667-471_1667-469delinsCTT
ENST00000438926.6:c.1670-471_1670-469delinsCTT	ENSP00000402152.2:n.1670-471_1670-469delinsCTT
ENST00000563236.5:c.1670-471_1670-469delinsCTT	ENSP00000456149.1:n.1670-471_1670-469delinsCTT
ENST00000566786.5:c.1667-471_1667-469delinsCTT	ENSP00000457552.1:n.1667-471_1667-469delinsCTT
NM_000339.2:c.1670-471_1670-469delinsCTT	NP_000330.2:n.1670-471_1670-469delinsCTT
NM_001126107.1:c.1667-471_1667-469delinsCTT	NP_001119579.1:n.1667-471_1667-469delinsCTT
NM_001126108.1:c.1670-471_1670-469delinsCTT	NP_001119580.1:n.1670-471_1670-469delinsCTT
XM_005256119.1:c.1667-471_1667-469delinsCTT	XP_005256176.1:n.1667-471_1667-469delinsCTT
XM_005256119.2:c.1667-471_1667-469delinsCTT	XP_005256176.1:n.1667-471_1667-469delinsCTT
NM_000339.3:c.1670-471_1670-469delinsCTT	NP_000330.3:n.1670-471_1670-469delinsCTT
NM_001126107.2:c.1667-471_1667-469delinsCTT	NP_001119579.2:n.1667-471_1667-469delinsCTT
NM_001126108.2:c.1670-471_1670-469delinsCTT MANE Select	NP_001119580.2:n.1670-471_1670-469delinsCTT