Canonical Allele Identifier: CA2627635172
Gene: SLC12A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34260953del , CM000677.2:g.34260953del GRCh38
NC_000015.9:g.34553154del , CM000677.1:g.34553154del GRCh37
NC_000015.8:g.32340446del NCBI36
NG_007951.1:g.82115del , LRG_270:g.82115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.387del MANE Select ENSP00000346112.3:p.Phe129LeufsTer?
ENST00000675289.1:n.1169del
ENST00000676379.1:c.387del ENSP00000502539.1:p.Phe129LeufsTer?
ENST00000290209.9:c.234del ENSP00000290209.5:p.Phe78LeufsTer?
ENST00000354181.7:c.387del ENSP00000346112.3:p.Phe129LeufsTer?
ENST00000397702.6:c.210del ENSP00000380814.2:p.Phe70LeufsTer?
ENST00000397707.6:c.342del ENSP00000380819.2:p.Phe114LeufsTer?
ENST00000458406.6:c.210del ENSP00000387725.2:p.Phe70LeufsTer?
ENST00000558589.5:c.360del ENSP00000452776.1:p.Phe120LeufsTer?
ENST00000558667.5:c.387del ENSP00000453473.1:p.Phe129LeufsTer?
ENST00000559236.5:c.387del ENSP00000452828.1:p.Phe129LeufsTer?
ENST00000559523.5:c.210del ENSP00000452904.1:p.Phe70LeufsTer?
ENST00000559664.5:c.387del ENSP00000453702.1:p.Phe129LeufsTer?
ENST00000560164.5:c.-31del ENSP00000452705.1:n.-31del
ENST00000560332.1:c.-31del ENSP00000454037.1:n.-31del
ENST00000560611.5:c.387del ENSP00000454168.1:p.Phe129LeufsTer?
ENST00000561080.5:c.387del ENSP00000454069.1:p.Phe129LeufsTer?
ENST00000561120.5:c.360del ENSP00000452771.1:p.Phe120LeufsTer?
NM_001042494.1:c.210del NP_001035959.1:p.Phe70LeufsTer?
NM_001042495.1:c.210del NP_001035960.1:p.Phe70LeufsTer?
NM_001042496.1:c.360del NP_001035961.1:p.Phe120LeufsTer?
NM_001042497.1:c.342del NP_001035962.1:p.Phe114LeufsTer?
NM_005135.2:c.234del , LRG_270t1:c.234del NP_005126.1:p.Phe78LeufsTer?
NM_133647.1:c.387del , LRG_270t2:c.387del NP_598408.1:p.Phe129LeufsTer?
XM_006720793.2:c.387del XP_006720856.1:p.Phe129LeufsTer?
XM_011522267.1:c.387del XP_011520569.1:p.Phe129LeufsTer?
XM_011522268.1:c.387del XP_011520570.1:p.Phe129LeufsTer?
XM_011522269.1:c.387del XP_011520571.1:p.Phe129LeufsTer?
XR_429476.2:n.393del
XR_931960.1:n.393del
XR_931961.1:n.393del
NM_001365088.1:c.387del MANE Select NP_001352017.1:p.Phe129LeufsTer?
XM_006720793.4:c.387del XP_006720856.1:p.Phe129LeufsTer?
XM_011522269.3:c.387del XP_011520571.1:p.Phe129LeufsTer?
XR_931960.3:n.1637del
NM_001042494.2:c.210del NP_001035959.1:p.Phe70LeufsTer?
NM_001042495.2:c.210del NP_001035960.1:p.Phe70LeufsTer?
NM_001042496.2:c.360del NP_001035961.1:p.Phe120LeufsTer?
NM_001042497.2:c.342del NP_001035962.1:p.Phe114LeufsTer?
NM_133647.2:c.387del NP_598408.1:p.Phe129LeufsTer?