Canonical Allele Identifier: CA2741488982

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884231_56884232insAGAGGTGTTTGGGTCATGGGGGAGGAT , CM000678.2:g.56884231_56884232insAGAGGTGTTTGGGTCATGGGGGAGGAT	GRCh38
NC_000016.9:g.56918143_56918144insAGAGGTGTTTGGGTCATGGGGGAGGAT , CM000678.1:g.56918143_56918144insAGAGGTGTTTGGGTCATGGGGGAGGAT	GRCh37
NC_000016.8:g.55475644_55475645insAGAGGTGTTTGGGTCATGGGGGAGGAT	NCBI36
NG_009386.1:g.24025_24026insAGAGGTGTTTGGGTCATGGGGGAGGAT
NG_009386.2:g.24025_24026insAGAGGTGTTTGGGTCATGGGGGAGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT MANE Select	ENSP00000456149.2:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGA...
ENST00000262502.5:c.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	ENSP00000262502.5:n.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGA...
ENST00000438926.6:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	ENSP00000402152.2:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGA...
ENST00000563236.5:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	ENSP00000456149.1:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGA...
ENST00000566786.5:c.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	ENSP00000457552.1:n.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGA...
NM_000339.2:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	NP_000330.2:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT
NM_001126107.1:c.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	NP_001119579.1:n.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGA...
NM_001126108.1:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	NP_001119580.1:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGA...
XM_005256119.1:c.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	XP_005256176.1:n.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGA...
XM_005256119.2:c.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	XP_005256176.1:n.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGA...
NM_000339.3:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	NP_000330.3:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT
NM_001126107.2:c.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGAT	NP_001119579.2:n.1822+27_1822+28insAGAGGTGTTTGGGTCATGGGGGAGGA...
NM_001126108.2:c.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGAT MANE Select	NP_001119580.2:n.1825+27_1825+28insAGAGGTGTTTGGGTCATGGGGGAGGA...