Canonical Allele Identifier: CA2633380608

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2751501
• ClinVar RCV Id: RCV003570916
• gnomAD v4: 16-56904410-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904412del , CM000678.2:g.56904412del	GRCh38
NC_000016.9:g.56938324del , CM000678.1:g.56938324del	GRCh37
NC_000016.8:g.55495825del	NCBI36
NG_009386.1:g.44206del
NG_009386.2:g.44206del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2874del MANE Select	ENSP00000456149.2:p.Arg958SerfsTer2
ENST00000262502.5:c.2871del	ENSP00000262502.5:p.Arg957SerfsTer2
ENST00000438926.6:c.2901del	ENSP00000402152.2:p.Arg967SerfsTer2
ENST00000563236.5:c.2874del	ENSP00000456149.1:p.Arg958SerfsTer2
ENST00000566786.5:c.2898del	ENSP00000457552.1:p.Arg966SerfsTer2
ENST00000569002.1:n.305del
NM_000339.2:c.2901del	NP_000330.2:p.Arg967SerfsTer2
NM_001126107.1:c.2898del	NP_001119579.1:p.Arg966SerfsTer2
NM_001126108.1:c.2874del	NP_001119580.1:p.Arg958SerfsTer2
XM_005256119.1:c.2871del	XP_005256176.1:p.Arg957SerfsTer2
XM_005256119.2:c.2871del	XP_005256176.1:p.Arg957SerfsTer2
NM_000339.3:c.2901del	NP_000330.3:p.Arg967SerfsTer2
NM_001126107.2:c.2898del	NP_001119579.2:p.Arg966SerfsTer2
NM_001126108.2:c.2874del MANE Select	NP_001119580.2:p.Arg958SerfsTer2