Canonical Allele Identifier: CA2224356322

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884529_56884530delinsCA , CM000678.2:g.56884529_56884530delinsCA	GRCh38
NC_000016.9:g.56918441_56918442delinsCA , CM000678.1:g.56918441_56918442delinsCA	GRCh37
NC_000016.8:g.55475942_55475943delinsCA	NCBI36
NG_009386.1:g.24323_24324delinsCA
NG_009386.2:g.24323_24324delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1825+325_1825+326delinsCA MANE Select	ENSP00000456149.2:n.1825+325_1825+326delinsCA
ENST00000262502.5:c.1822+325_1822+326delinsCA	ENSP00000262502.5:n.1822+325_1822+326delinsCA
ENST00000438926.6:c.1825+325_1825+326delinsCA	ENSP00000402152.2:n.1825+325_1825+326delinsCA
ENST00000563236.5:c.1825+325_1825+326delinsCA	ENSP00000456149.1:n.1825+325_1825+326delinsCA
ENST00000566786.5:c.1822+325_1822+326delinsCA	ENSP00000457552.1:n.1822+325_1822+326delinsCA
NM_000339.2:c.1825+325_1825+326delinsCA	NP_000330.2:n.1825+325_1825+326delinsCA
NM_001126107.1:c.1822+325_1822+326delinsCA	NP_001119579.1:n.1822+325_1822+326delinsCA
NM_001126108.1:c.1825+325_1825+326delinsCA	NP_001119580.1:n.1825+325_1825+326delinsCA
XM_005256119.1:c.1822+325_1822+326delinsCA	XP_005256176.1:n.1822+325_1822+326delinsCA
XM_005256119.2:c.1822+325_1822+326delinsCA	XP_005256176.1:n.1822+325_1822+326delinsCA
NM_000339.3:c.1825+325_1825+326delinsCA	NP_000330.3:n.1825+325_1825+326delinsCA
NM_001126107.2:c.1822+325_1822+326delinsCA	NP_001119579.2:n.1822+325_1822+326delinsCA
NM_001126108.2:c.1825+325_1825+326delinsCA MANE Select	NP_001119580.2:n.1825+325_1825+326delinsCA