Canonical Allele Identifier: CA2633379327

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56879126-G-GACTTGACTTCAGACTGAGGACCATGATCTCAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879126_56879127insACTTGACTTCAGACTGAGGACCATGATCTCAGAT , CM000678.2:g.56879126_56879127insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	GRCh38
NC_000016.9:g.56913038_56913039insACTTGACTTCAGACTGAGGACCATGATCTCAGAT , CM000678.1:g.56913038_56913039insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	GRCh37
NC_000016.8:g.55470539_55470540insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	NCBI36
NG_009386.1:g.18920_18921insACTTGACTTCAGACTGAGGACCATGATCTCAGAT
NG_009386.2:g.18920_18921insACTTGACTTCAGACTGAGGACCATGATCTCAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT MANE Select	ENSP00000456149.2:p.Gly412AspfsTer6
ENST00000262502.5:c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	ENSP00000262502.5:p.Gly411AspfsTer6
ENST00000438926.6:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	ENSP00000402152.2:p.Gly412AspfsTer6
ENST00000563236.5:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	ENSP00000456149.1:p.Gly412AspfsTer6
ENST00000566786.5:c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	ENSP00000457552.1:p.Gly411AspfsTer6
NM_000339.2:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	NP_000330.2:p.Gly412AspfsTer6
NM_001126107.1:c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	NP_001119579.1:p.Gly411AspfsTer6
NM_001126108.1:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	NP_001119580.1:p.Gly412AspfsTer6
XM_005256119.1:c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	XP_005256176.1:p.Gly411AspfsTer6
XM_005256119.2:c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	XP_005256176.1:p.Gly411AspfsTer6
NM_000339.3:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	NP_000330.3:p.Gly412AspfsTer6
NM_001126107.2:c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT	NP_001119579.2:p.Gly411AspfsTer6
NM_001126108.2:c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT MANE Select	NP_001119580.2:p.Gly412AspfsTer6