Canonical Allele Identifier: CA2224350079

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56871711_56871719delinsCTTTATTTA , CM000678.2:g.56871711_56871719delinsCTTTATTTA	GRCh38
NC_000016.9:g.56905623_56905631delinsCTTTATTTA , CM000678.1:g.56905623_56905631delinsCTTTATTTA	GRCh37
NC_000016.8:g.55463124_55463132delinsCTTTATTTA	NCBI36
NG_009386.1:g.11505_11513delinsCTTTATTTA
NG_009386.2:g.11505_11513delinsCTTTATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.853-640_853-632delinsCTTTATTTA MANE Select	ENSP00000456149.2:n.853-640_853-632delinsCTTTATTTA
ENST00000262502.5:c.850-640_850-632delinsCTTTATTTA	ENSP00000262502.5:n.850-640_850-632delinsCTTTATTTA
ENST00000438926.6:c.853-640_853-632delinsCTTTATTTA	ENSP00000402152.2:n.853-640_853-632delinsCTTTATTTA
ENST00000563236.5:c.853-640_853-632delinsCTTTATTTA	ENSP00000456149.1:n.853-640_853-632delinsCTTTATTTA
ENST00000566786.5:c.850-640_850-632delinsCTTTATTTA	ENSP00000457552.1:n.850-640_850-632delinsCTTTATTTA
NM_000339.2:c.853-640_853-632delinsCTTTATTTA	NP_000330.2:n.853-640_853-632delinsCTTTATTTA
NM_001126107.1:c.850-640_850-632delinsCTTTATTTA	NP_001119579.1:n.850-640_850-632delinsCTTTATTTA
NM_001126108.1:c.853-640_853-632delinsCTTTATTTA	NP_001119580.1:n.853-640_853-632delinsCTTTATTTA
XM_005256119.1:c.850-640_850-632delinsCTTTATTTA	XP_005256176.1:n.850-640_850-632delinsCTTTATTTA
XM_005256119.2:c.850-640_850-632delinsCTTTATTTA	XP_005256176.1:n.850-640_850-632delinsCTTTATTTA
NM_000339.3:c.853-640_853-632delinsCTTTATTTA	NP_000330.3:n.853-640_853-632delinsCTTTATTTA
NM_001126107.2:c.850-640_850-632delinsCTTTATTTA	NP_001119579.2:n.850-640_850-632delinsCTTTATTTA
NM_001126108.2:c.853-640_853-632delinsCTTTATTTA MANE Select	NP_001119580.2:n.853-640_853-632delinsCTTTATTTA