Canonical Allele Identifier: CA8069594
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 280024
ClinVar RCV Id: RCV000406463
dbSNP Id: rs754220610

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56884122del , CM000678.2:g.56884122del GRCh38
NC_000016.9:g.56918034del , CM000678.1:g.56918034del GRCh37
NC_000016.8:g.55475535del NCBI36
NG_009386.1:g.23916del
NG_009386.2:g.23916del

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.1743del MANE Select ENSP00000456149.2:p.Met581IlefsTer30
ENST00000262502.5:c.1740del ENSP00000262502.5:p.Met580IlefsTer30
ENST00000438926.6:c.1743del ENSP00000402152.2:p.Met581IlefsTer30
ENST00000563236.5:c.1743del ENSP00000456149.1:p.Met581IlefsTer30
ENST00000566786.5:c.1740del ENSP00000457552.1:p.Met580IlefsTer30
NM_000339.2:c.1743del NP_000330.2:p.Met581IlefsTer30
NM_001126107.1:c.1740del NP_001119579.1:p.Met580IlefsTer30
NM_001126108.1:c.1743del NP_001119580.1:p.Met581IlefsTer30
XM_005256119.1:c.1740del XP_005256176.1:p.Met580IlefsTer30
XM_005256119.2:c.1740del XP_005256176.1:p.Met580IlefsTer30
NM_000339.3:c.1743del NP_000330.3:p.Met581IlefsTer30
NM_001126107.2:c.1740del NP_001119579.2:p.Met580IlefsTer30
NM_001126108.2:c.1743del MANE Select NP_001119580.2:p.Met581IlefsTer30