Canonical Allele Identifier: CA2697555869
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750657
ClinVar RCV Id: RCV003563564

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56887969_56887970del , CM000678.2:g.56887969_56887970del GRCh38
NC_000016.9:g.56921881_56921882del , CM000678.1:g.56921881_56921882del GRCh37
NC_000016.8:g.55479382_55479383del NCBI36
NG_009386.1:g.27763_27764del
NG_009386.2:g.27763_27764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2223_2224del MANE Select ENSP00000456149.2:p.Phe742GlnfsTer21
ENST00000262502.5:c.2220_2221del ENSP00000262502.5:p.Phe741GlnfsTer21
ENST00000438926.6:c.2223_2224del ENSP00000402152.2:p.Phe742GlnfsTer21
ENST00000563236.5:c.2223_2224del ENSP00000456149.1:p.Phe742GlnfsTer21
ENST00000566786.5:c.2220_2221del ENSP00000457552.1:p.Phe741GlnfsTer21
NM_000339.2:c.2223_2224del NP_000330.2:p.Phe742GlnfsTer21
NM_001126107.1:c.2220_2221del NP_001119579.1:p.Phe741GlnfsTer21
NM_001126108.1:c.2223_2224del NP_001119580.1:p.Phe742GlnfsTer21
XM_005256119.1:c.2220_2221del XP_005256176.1:p.Phe741GlnfsTer21
XM_005256119.2:c.2220_2221del XP_005256176.1:p.Phe741GlnfsTer21
NM_000339.3:c.2223_2224del NP_000330.3:p.Phe742GlnfsTer21
NM_001126107.2:c.2220_2221del NP_001119579.2:p.Phe741GlnfsTer21
NM_001126108.2:c.2223_2224del MANE Select NP_001119580.2:p.Phe742GlnfsTer21