Canonical Allele Identifier: CA2224356300

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884499_56884500delinsTC , CM000678.2:g.56884499_56884500delinsTC	GRCh38
NC_000016.9:g.56918411_56918412delinsTC , CM000678.1:g.56918411_56918412delinsTC	GRCh37
NC_000016.8:g.55475912_55475913delinsTC	NCBI36
NG_009386.1:g.24293_24294delinsTC
NG_009386.2:g.24293_24294delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1825+295_1825+296delinsTC MANE Select	ENSP00000456149.2:n.1825+295_1825+296delinsTC
ENST00000262502.5:c.1822+295_1822+296delinsTC	ENSP00000262502.5:n.1822+295_1822+296delinsTC
ENST00000438926.6:c.1825+295_1825+296delinsTC	ENSP00000402152.2:n.1825+295_1825+296delinsTC
ENST00000563236.5:c.1825+295_1825+296delinsTC	ENSP00000456149.1:n.1825+295_1825+296delinsTC
ENST00000566786.5:c.1822+295_1822+296delinsTC	ENSP00000457552.1:n.1822+295_1822+296delinsTC
NM_000339.2:c.1825+295_1825+296delinsTC	NP_000330.2:n.1825+295_1825+296delinsTC
NM_001126107.1:c.1822+295_1822+296delinsTC	NP_001119579.1:n.1822+295_1822+296delinsTC
NM_001126108.1:c.1825+295_1825+296delinsTC	NP_001119580.1:n.1825+295_1825+296delinsTC
XM_005256119.1:c.1822+295_1822+296delinsTC	XP_005256176.1:n.1822+295_1822+296delinsTC
XM_005256119.2:c.1822+295_1822+296delinsTC	XP_005256176.1:n.1822+295_1822+296delinsTC
NM_000339.3:c.1825+295_1825+296delinsTC	NP_000330.3:n.1825+295_1825+296delinsTC
NM_001126107.2:c.1822+295_1822+296delinsTC	NP_001119579.2:n.1822+295_1822+296delinsTC
NM_001126108.2:c.1825+295_1825+296delinsTC MANE Select	NP_001119580.2:n.1825+295_1825+296delinsTC