Canonical Allele Identifier: CA2633371254

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870221-C-CCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870221_56870222insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT , CM000678.2:g.56870221_56870222insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	GRCh38
NC_000016.9:g.56904133_56904134insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT , CM000678.1:g.56904133_56904134insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	GRCh37
NC_000016.8:g.55461634_55461635insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	NCBI36
NG_009386.1:g.10015_10016insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT
NG_009386.2:g.10015_10016insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT MANE Select	ENSP00000456149.2:p.Arg243ProfsTer?
ENST00000262502.5:c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	ENSP00000262502.5:p.Arg242ProfsTer?
ENST00000438926.6:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	ENSP00000402152.2:p.Arg243ProfsTer?
ENST00000563236.5:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	ENSP00000456149.1:p.Arg243ProfsTer?
ENST00000566786.5:c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	ENSP00000457552.1:p.Arg242ProfsTer?
NM_000339.2:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	NP_000330.2:p.Arg243ProfsTer?
NM_001126107.1:c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	NP_001119579.1:p.Arg242ProfsTer?
NM_001126108.1:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	NP_001119580.1:p.Arg243ProfsTer?
XM_005256119.1:c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	XP_005256176.1:p.Arg242ProfsTer?
XM_005256119.2:c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	XP_005256176.1:p.Arg242ProfsTer?
NM_000339.3:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	NP_000330.3:p.Arg243ProfsTer?
NM_001126107.2:c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT	NP_001119579.2:p.Arg242ProfsTer?
NM_001126108.2:c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT MANE Select	NP_001119580.2:p.Arg243ProfsTer?