Canonical Allele Identifier: CA2695223431

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879179_56879188del , CM000678.2:g.56879179_56879188del	GRCh38
NC_000016.9:g.56913091_56913100del , CM000678.1:g.56913091_56913100del	GRCh37
NC_000016.8:g.55470592_55470601del	NCBI36
NG_009386.1:g.18973_18982del
NG_009386.2:g.18973_18982del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1287_1296del MANE Select	ENSP00000456149.2:p.Glu429AspfsTer16
ENST00000262502.5:c.1284_1293del	ENSP00000262502.5:p.Glu428AspfsTer16
ENST00000438926.6:c.1287_1296del	ENSP00000402152.2:p.Glu429AspfsTer16
ENST00000563236.5:c.1287_1296del	ENSP00000456149.1:p.Glu429AspfsTer16
ENST00000566786.5:c.1284_1293del	ENSP00000457552.1:p.Glu428AspfsTer16
NM_000339.2:c.1287_1296del	NP_000330.2:p.Glu429AspfsTer16
NM_001126107.1:c.1284_1293del	NP_001119579.1:p.Glu428AspfsTer16
NM_001126108.1:c.1287_1296del	NP_001119580.1:p.Glu429AspfsTer16
XM_005256119.1:c.1284_1293del	XP_005256176.1:p.Glu428AspfsTer16
XM_005256119.2:c.1284_1293del	XP_005256176.1:p.Glu428AspfsTer16
NM_000339.3:c.1287_1296del	NP_000330.3:p.Glu429AspfsTer16
NM_001126107.2:c.1284_1293del	NP_001119579.2:p.Glu428AspfsTer16
NM_001126108.2:c.1287_1296del MANE Select	NP_001119580.2:p.Glu429AspfsTer16