Canonical Allele Identifier: CA2224353712

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879051_56879052delinsAT , CM000678.2:g.56879051_56879052delinsAT	GRCh38
NC_000016.9:g.56912963_56912964delinsAT , CM000678.1:g.56912963_56912964delinsAT	GRCh37
NC_000016.8:g.55470464_55470465delinsAT	NCBI36
NG_009386.1:g.18845_18846delinsAT
NG_009386.2:g.18845_18846delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1181-22_1181-21delinsAT MANE Select	ENSP00000456149.2:n.1181-22_1181-21delinsAT
ENST00000262502.5:c.1178-22_1178-21delinsAT	ENSP00000262502.5:n.1178-22_1178-21delinsAT
ENST00000438926.6:c.1181-22_1181-21delinsAT	ENSP00000402152.2:n.1181-22_1181-21delinsAT
ENST00000563236.5:c.1181-22_1181-21delinsAT	ENSP00000456149.1:n.1181-22_1181-21delinsAT
ENST00000566786.5:c.1178-22_1178-21delinsAT	ENSP00000457552.1:n.1178-22_1178-21delinsAT
NM_000339.2:c.1181-22_1181-21delinsAT	NP_000330.2:n.1181-22_1181-21delinsAT
NM_001126107.1:c.1178-22_1178-21delinsAT	NP_001119579.1:n.1178-22_1178-21delinsAT
NM_001126108.1:c.1181-22_1181-21delinsAT	NP_001119580.1:n.1181-22_1181-21delinsAT
XM_005256119.1:c.1178-22_1178-21delinsAT	XP_005256176.1:n.1178-22_1178-21delinsAT
XM_005256119.2:c.1178-22_1178-21delinsAT	XP_005256176.1:n.1178-22_1178-21delinsAT
NM_000339.3:c.1181-22_1181-21delinsAT	NP_000330.3:n.1181-22_1181-21delinsAT
NM_001126107.2:c.1178-22_1178-21delinsAT	NP_001119579.2:n.1178-22_1178-21delinsAT
NM_001126108.2:c.1181-22_1181-21delinsAT MANE Select	NP_001119580.2:n.1181-22_1181-21delinsAT