Canonical Allele Identifier: CA2580091699

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 8593
• ClinVar RCV Id: RCV000009124
• dbSNP Id: rs2144723103

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884059_56884061del , CM000678.2:g.56884059_56884061del	GRCh38
NC_000016.9:g.56917971_56917973del , CM000678.1:g.56917971_56917973del	GRCh37
NC_000016.8:g.55475472_55475474del	NCBI36
NG_009386.1:g.23853_23855del
NG_009386.2:g.23853_23855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1680_1682del MANE Select	ENSP00000456149.2:p.Ser561del
ENST00000262502.5:c.1677_1679del	ENSP00000262502.5:p.Ser560del
ENST00000438926.6:c.1680_1682del	ENSP00000402152.2:p.Ser561del
ENST00000563236.5:c.1680_1682del	ENSP00000456149.1:p.Ser561del
ENST00000566786.5:c.1677_1679del	ENSP00000457552.1:p.Ser560del
NM_000339.2:c.1680_1682del	NP_000330.2:p.Ser561del
NM_001126107.1:c.1677_1679del	NP_001119579.1:p.Ser560del
NM_001126108.1:c.1680_1682del	NP_001119580.1:p.Ser561del
XM_005256119.1:c.1677_1679del	XP_005256176.1:p.Ser560del
XM_005256119.2:c.1677_1679del	XP_005256176.1:p.Ser560del
NM_000339.3:c.1680_1682del	NP_000330.3:p.Ser561del
NM_001126107.2:c.1677_1679del	NP_001119579.2:p.Ser560del
NM_001126108.2:c.1680_1682del MANE Select	NP_001119580.2:p.Ser561del