Canonical Allele Identifier: CA622333933
Gene: SLC12A3 HGNC NCBI

Linked Data

dbSNP Id: rs1298941904

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56870169del , CM000678.2:g.56870169del GRCh38
NC_000016.9:g.56904081del , CM000678.1:g.56904081del GRCh37
NC_000016.8:g.55461582del NCBI36
NG_009386.1:g.9963del
NG_009386.2:g.9963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.675del MANE Select ENSP00000456149.2:p.Phe225LeufsTer?
ENST00000262502.5:c.672del ENSP00000262502.5:p.Phe224LeufsTer?
ENST00000438926.6:c.675del ENSP00000402152.2:p.Phe225LeufsTer?
ENST00000563236.5:c.675del ENSP00000456149.1:p.Phe225LeufsTer?
ENST00000566786.5:c.672del ENSP00000457552.1:p.Phe224LeufsTer?
NM_000339.2:c.675del NP_000330.2:p.Phe225LeufsTer?
NM_001126107.1:c.672del NP_001119579.1:p.Phe224LeufsTer?
NM_001126108.1:c.675del NP_001119580.1:p.Phe225LeufsTer?
XM_005256119.1:c.672del XP_005256176.1:p.Phe224LeufsTer?
XM_005256119.2:c.672del XP_005256176.1:p.Phe224LeufsTer?
NM_000339.3:c.675del NP_000330.3:p.Phe225LeufsTer?
NM_001126107.2:c.672del NP_001119579.2:p.Phe224LeufsTer?
NM_001126108.2:c.675del MANE Select NP_001119580.2:p.Phe225LeufsTer?