Canonical Allele Identifier: CA2573332962

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2574798
• ClinVar RCV Id: RCV003319695

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884057_56884058delinsGA , CM000678.2:g.56884057_56884058delinsGA	GRCh38
NC_000016.9:g.56917969_56917970delinsGA , CM000678.1:g.56917969_56917970delinsGA	GRCh37
NC_000016.8:g.55475470_55475471delinsGA	NCBI36
NG_009386.1:g.23851_23852delinsGA
NG_009386.2:g.23851_23852delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1678_1679delinsGA MANE Select	ENSP00000456149.2:p.Pro560Asp
ENST00000262502.5:c.1675_1676delinsGA	ENSP00000262502.5:p.Pro559Asp
ENST00000438926.6:c.1678_1679delinsGA	ENSP00000402152.2:p.Pro560Asp
ENST00000563236.5:c.1678_1679delinsGA	ENSP00000456149.1:p.Pro560Asp
ENST00000566786.5:c.1675_1676delinsGA	ENSP00000457552.1:p.Pro559Asp
NM_000339.2:c.1678_1679delinsGA	NP_000330.2:p.Pro560Asp
NM_001126107.1:c.1675_1676delinsGA	NP_001119579.1:p.Pro559Asp
NM_001126108.1:c.1678_1679delinsGA	NP_001119580.1:p.Pro560Asp
XM_005256119.1:c.1675_1676delinsGA	XP_005256176.1:p.Pro559Asp
XM_005256119.2:c.1675_1676delinsGA	XP_005256176.1:p.Pro559Asp
NM_000339.3:c.1678_1679delinsGA	NP_000330.3:p.Pro560Asp
NM_001126107.2:c.1675_1676delinsGA	NP_001119579.2:p.Pro559Asp
NM_001126108.2:c.1678_1679delinsGA MANE Select	NP_001119580.2:p.Pro560Asp