Canonical Allele Identifier: CA1139664709

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2577273
• ClinVar RCV Id: RCV003324350
• dbSNP Id: rs2055081574

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870675delinsGCGTGGTCTCGGTCATTGG , CM000678.2:g.56870675delinsGCGTGGTCTCGGTCATTGG	GRCh38
NC_000016.9:g.56904587delinsGCGTGGTCTCGGTCATTGG , CM000678.1:g.56904587delinsGCGTGGTCTCGGTCATTGG	GRCh37
NC_000016.8:g.55462088delinsGCGTGGTCTCGGTCATTGG	NCBI36
NG_009386.2:g.10469delinsGCGTGGTCTCGGTCATTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.791delinsGCGTGGTCTCGGTCATTGG MANE Select	ENSP00000456149.2:p.Ala264delinsGlyValVal...
ENST00000262502.5:c.788delinsGCGTGGTCTCGGTCATTGG	ENSP00000262502.5:p.Ala263delinsGlyValVal...
ENST00000438926.6:c.791delinsGCGTGGTCTCGGTCATTGG	ENSP00000402152.2:p.Ala264delinsGlyValVal...
ENST00000563236.5:c.791delinsGCGTGGTCTCGGTCATTGG	ENSP00000456149.1:p.Ala264delinsGlyValVal...
ENST00000566786.5:c.788delinsGCGTGGTCTCGGTCATTGG	ENSP00000457552.1:p.Ala263delinsGlyValVal...
XM_005256119.1:c.788delinsGCGTGGTCTCGGTCATTGG	XP_005256176.1:p.Ala263delinsGlyValValSer...
XM_005256119.2:c.788delinsGCGTGGTCTCGGTCATTGG	XP_005256176.1:p.Ala263delinsGlyValValSer...
NM_000339.3:c.791delinsGCGTGGTCTCGGTCATTGG	NP_000330.3:p.Ala264delinsGlyValValSerVal...
NM_001126107.2:c.788delinsGCGTGGTCTCGGTCATTGG	NP_001119579.2:p.Ala263delinsGlyValValSer...
NM_001126108.2:c.791delinsGCGTGGTCTCGGTCATTGG MANE Select	NP_001119580.2:p.Ala264delinsGlyValValSer...