Canonical Allele Identifier: CA2695223460

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894534_56894535dup , CM000678.2:g.56894534_56894535dup	GRCh38
NC_000016.9:g.56928446_56928447dup , CM000678.1:g.56928446_56928447dup	GRCh37
NC_000016.8:g.55485947_55485948dup	NCBI36
NG_009386.1:g.34328_34329dup
NG_009386.2:g.34328_34329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2525_2526dup MANE Select	ENSP00000456149.2:p.Thr843SerfsTer24
ENST00000262502.5:c.2522_2523dup	ENSP00000262502.5:p.Thr842SerfsTer24
ENST00000438926.6:c.2552_2553dup	ENSP00000402152.2:p.Thr852SerfsTer24
ENST00000563236.5:c.2525_2526dup	ENSP00000456149.1:p.Thr843SerfsTer24
ENST00000566786.5:c.2549_2550dup	ENSP00000457552.1:p.Thr851SerfsTer24
NM_000339.2:c.2552_2553dup	NP_000330.2:p.Thr852SerfsTer24
NM_001126107.1:c.2549_2550dup	NP_001119579.1:p.Thr851SerfsTer24
NM_001126108.1:c.2525_2526dup	NP_001119580.1:p.Thr843SerfsTer24
XM_005256119.1:c.2522_2523dup	XP_005256176.1:p.Thr842SerfsTer24
XM_005256119.2:c.2522_2523dup	XP_005256176.1:p.Thr842SerfsTer24
NM_000339.3:c.2552_2553dup	NP_000330.3:p.Thr852SerfsTer24
NM_001126107.2:c.2549_2550dup	NP_001119579.2:p.Thr851SerfsTer24
NM_001126108.2:c.2525_2526dup MANE Select	NP_001119580.2:p.Thr843SerfsTer24