Canonical Allele Identifier: CA712222968
Gene: SLC12A6 HGNC NCBI

Linked Data

dbSNP Id: rs1274644017

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34257652del , CM000677.2:g.34257652del GRCh38
NC_000015.9:g.34549853del , CM000677.1:g.34549853del GRCh37
NC_000015.8:g.32337145del NCBI36
NG_007951.1:g.85413del , LRG_270:g.85413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.680del MANE Select ENSP00000346112.3:p.Cys227SerfsTer7
ENST00000675289.1:n.1462del
ENST00000676379.1:c.680del ENSP00000502539.1:p.Cys227SerfsTer7
ENST00000290209.9:c.527del ENSP00000290209.5:p.Cys176SerfsTer7
ENST00000354181.7:c.680del ENSP00000346112.3:p.Cys227SerfsTer7
ENST00000397702.6:c.503del ENSP00000380814.2:p.Cys168SerfsTer7
ENST00000397707.6:c.635del ENSP00000380819.2:p.Cys212SerfsTer7
ENST00000458406.6:c.503del ENSP00000387725.2:p.Cys168SerfsTer7
ENST00000558589.5:c.653del ENSP00000452776.1:p.Cys218SerfsTer7
ENST00000558667.5:c.680del ENSP00000453473.1:p.Cys227SerfsTer7
ENST00000559523.5:c.503del ENSP00000452904.1:p.Cys168SerfsTer7
ENST00000559664.5:c.680del ENSP00000453702.1:p.Cys227SerfsTer7
ENST00000560164.5:c.126+1161del ENSP00000452705.1:n.126+1161del
ENST00000560332.1:c.263del ENSP00000454037.1:p.Cys88SerfsTer7
ENST00000560611.5:c.680del ENSP00000454168.1:p.Cys227SerfsTer7
ENST00000561080.5:c.680del ENSP00000454069.1:p.Cys227SerfsTer7
NM_001042494.1:c.503del NP_001035959.1:p.Cys168SerfsTer7
NM_001042495.1:c.503del NP_001035960.1:p.Cys168SerfsTer7
NM_001042496.1:c.653del NP_001035961.1:p.Cys218SerfsTer7
NM_001042497.1:c.635del NP_001035962.1:p.Cys212SerfsTer7
NM_005135.2:c.527del , LRG_270t1:c.527del NP_005126.1:p.Cys176SerfsTer7
NM_133647.1:c.680del , LRG_270t2:c.680del NP_598408.1:p.Cys227SerfsTer7
XM_006720793.2:c.543+1161del XP_006720856.1:n.543+1161del
XM_011522267.1:c.680del XP_011520569.1:p.Cys227SerfsTer7
XM_011522268.1:c.680del XP_011520570.1:p.Cys227SerfsTer7
XM_011522269.1:c.680del XP_011520571.1:p.Cys227SerfsTer7
XR_429476.2:n.686del
XR_931960.1:n.686del
XR_931961.1:n.686del
NM_001365088.1:c.680del MANE Select NP_001352017.1:p.Cys227SerfsTer7
XM_006720793.4:c.543+1161del XP_006720856.1:n.543+1161del
XM_011522269.3:c.680del XP_011520571.1:p.Cys227SerfsTer7
XR_931960.3:n.1930del
NM_001042494.2:c.503del NP_001035959.1:p.Cys168SerfsTer7
NM_001042495.2:c.503del NP_001035960.1:p.Cys168SerfsTer7
NM_001042496.2:c.653del NP_001035961.1:p.Cys218SerfsTer7
NM_001042497.2:c.635del NP_001035962.1:p.Cys212SerfsTer7
NM_133647.2:c.680del NP_598408.1:p.Cys227SerfsTer7