Canonical Allele Identifier: CA2224361213

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894540_56894541delinsTC , CM000678.2:g.56894540_56894541delinsTC	GRCh38
NC_000016.9:g.56928452_56928453delinsTC , CM000678.1:g.56928452_56928453delinsTC	GRCh37
NC_000016.8:g.55485953_55485954delinsTC	NCBI36
NG_009386.1:g.34334_34335delinsTC
NG_009386.2:g.34334_34335delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2531_2532delinsTC MANE Select	ENSP00000456149.2:p.Leu844=
ENST00000262502.5:c.2528_2529delinsTC	ENSP00000262502.5:p.Leu843=
ENST00000438926.6:c.2558_2559delinsTC	ENSP00000402152.2:p.Leu853=
ENST00000563236.5:c.2531_2532delinsTC	ENSP00000456149.1:p.Leu844=
ENST00000566786.5:c.2555_2556delinsTC	ENSP00000457552.1:p.Leu852=
NM_000339.2:c.2558_2559delinsTC	NP_000330.2:p.Leu853=
NM_001126107.1:c.2555_2556delinsTC	NP_001119579.1:p.Leu852=
NM_001126108.1:c.2531_2532delinsTC	NP_001119580.1:p.Leu844=
XM_005256119.1:c.2528_2529delinsTC	XP_005256176.1:p.Leu843=
XM_005256119.2:c.2528_2529delinsTC	XP_005256176.1:p.Leu843=
NM_000339.3:c.2558_2559delinsTC	NP_000330.3:p.Leu853=
NM_001126107.2:c.2555_2556delinsTC	NP_001119579.2:p.Leu852=
NM_001126108.2:c.2531_2532delinsTC MANE Select	NP_001119580.2:p.Leu844=