Canonical Allele Identifier: CA2224356177

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884089_56884106delinsGCTGTTTGGGGCTATCAT , CM000678.2:g.56884089_56884106delinsGCTGTTTGGGGCTATCAT	GRCh38
NC_000016.9:g.56918001_56918018delinsGCTGTTTGGGGCTATCAT , CM000678.1:g.56918001_56918018delinsGCTGTTTGGGGCTATCAT	GRCh37
NC_000016.8:g.55475502_55475519delinsGCTGTTTGGGGCTATCAT	NCBI36
NG_009386.1:g.23883_23900delinsGCTGTTTGGGGCTATCAT
NG_009386.2:g.23883_23900delinsGCTGTTTGGGGCTATCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1710_1727delinsGCTGTTTGGGGCTATCAT MANE Select	ENSP00000456149.2:p.Ala570=
ENST00000262502.5:c.1707_1724delinsGCTGTTTGGGGCTATCAT	ENSP00000262502.5:p.Ala569=
ENST00000438926.6:c.1710_1727delinsGCTGTTTGGGGCTATCAT	ENSP00000402152.2:p.Ala570=
ENST00000563236.5:c.1710_1727delinsGCTGTTTGGGGCTATCAT	ENSP00000456149.1:p.Ala570=
ENST00000566786.5:c.1707_1724delinsGCTGTTTGGGGCTATCAT	ENSP00000457552.1:p.Ala569=
NM_000339.2:c.1710_1727delinsGCTGTTTGGGGCTATCAT	NP_000330.2:p.Ala570=
NM_001126107.1:c.1707_1724delinsGCTGTTTGGGGCTATCAT	NP_001119579.1:p.Ala569=
NM_001126108.1:c.1710_1727delinsGCTGTTTGGGGCTATCAT	NP_001119580.1:p.Ala570=
XM_005256119.1:c.1707_1724delinsGCTGTTTGGGGCTATCAT	XP_005256176.1:p.Ala569=
XM_005256119.2:c.1707_1724delinsGCTGTTTGGGGCTATCAT	XP_005256176.1:p.Ala569=
NM_000339.3:c.1710_1727delinsGCTGTTTGGGGCTATCAT	NP_000330.3:p.Ala570=
NM_001126107.2:c.1707_1724delinsGCTGTTTGGGGCTATCAT	NP_001119579.2:p.Ala569=
NM_001126108.2:c.1710_1727delinsGCTGTTTGGGGCTATCAT MANE Select	NP_001119580.2:p.Ala570=