Canonical Allele Identifier: CA2224353734

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879087_56879088delinsCG , CM000678.2:g.56879087_56879088delinsCG	GRCh38
NC_000016.9:g.56912999_56913000delinsCG , CM000678.1:g.56912999_56913000delinsCG	GRCh37
NC_000016.8:g.55470500_55470501delinsCG	NCBI36
NG_009386.1:g.18881_18882delinsCG
NG_009386.2:g.18881_18882delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1195_1196delinsCG MANE Select	ENSP00000456149.2:p.Arg399=
ENST00000262502.5:c.1192_1193delinsCG	ENSP00000262502.5:p.Arg398=
ENST00000438926.6:c.1195_1196delinsCG	ENSP00000402152.2:p.Arg399=
ENST00000563236.5:c.1195_1196delinsCG	ENSP00000456149.1:p.Arg399=
ENST00000566786.5:c.1192_1193delinsCG	ENSP00000457552.1:p.Arg398=
NM_000339.2:c.1195_1196delinsCG	NP_000330.2:p.Arg399=
NM_001126107.1:c.1192_1193delinsCG	NP_001119579.1:p.Arg398=
NM_001126108.1:c.1195_1196delinsCG	NP_001119580.1:p.Arg399=
XM_005256119.1:c.1192_1193delinsCG	XP_005256176.1:p.Arg398=
XM_005256119.2:c.1192_1193delinsCG	XP_005256176.1:p.Arg398=
NM_000339.3:c.1195_1196delinsCG	NP_000330.3:p.Arg399=
NM_001126107.2:c.1192_1193delinsCG	NP_001119579.2:p.Arg398=
NM_001126108.2:c.1195_1196delinsCG MANE Select	NP_001119580.2:p.Arg399=