Canonical Allele Identifier: CA2631642137
Gene: PMM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806392_8806393del , CM000678.2:g.8806392_8806393del GRCh38
NC_000016.9:g.8900249_8900250del , CM000678.1:g.8900249_8900250del GRCh37
NC_000016.8:g.8807750_8807751del NCBI36
NG_009209.1:g.13580_13581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.332_333del ENSP00000507849.1:p.Lys111ThrfsTer10
ENST00000682393.1:c.178+4482_178+4483del ENSP00000506774.1:n.178+4482_178+4483del
ENST00000683094.1:c.*54_*55del ENSP00000508230.1:n.*54_*55del
ENST00000683274.1:c.332_333del ENSP00000507262.1:p.Lys111ThrfsTer?
ENST00000683435.1:c.*328_*329del ENSP00000508092.1:n.*328_*329del
ENST00000268261.9:c.332_333del MANE Select ENSP00000268261.4:p.Lys111ThrfsTer10
ENST00000268261.8:c.332_333del ENSP00000268261.4:p.Lys111ThrfsTer10
ENST00000562318.5:c.*54_*55del ENSP00000454395.1:n.*54_*55del
ENST00000562448.1:n.296_297del
ENST00000564030.5:n.394_395del
ENST00000564069.1:c.303_304del
ENST00000565221.5:c.178+4482_178+4483del ENSP00000457932.1:n.178+4482_178+4483del
ENST00000565896.5:c.*145+4003_*145+4004del ENSP00000456024.1:n.*145+4003_*145+4004del
ENST00000566540.5:c.*54_*55del ENSP00000454284.1:n.*54_*55del
ENST00000566604.5:c.332_333del ENSP00000456774.1:p.Lys111ThrfsTer?
ENST00000566983.5:c.251_252del ENSP00000457956.1:p.Lys84ThrfsTer10
ENST00000568602.5:c.*185_*186del ENSP00000455066.1:n.*185_*186del
ENST00000569958.5:c.178+4482_178+4483del ENSP00000456302.1:n.178+4482_178+4483del
ENST00000570076.5:c.178+4482_178+4483del ENSP00000456961.1:n.178+4482_178+4483del
ENST00000570134.5:c.*54_*55del ENSP00000456275.1:n.*54_*55del
NM_000303.2:c.332_333del NP_000294.1:p.Lys111ThrfsTer10
XM_005255372.3:c.332_333del XP_005255429.1:p.Lys111ThrfsTer10
XM_005255373.3:c.83_84del XP_005255430.1:p.Lys28ThrfsTer10
XM_005255374.3:c.83_84del XP_005255431.1:p.Lys28ThrfsTer10
XM_011522538.1:c.332_333del XP_011520840.1:p.Lys111ThrfsTer10
XM_011522539.1:c.-29+4482_-29+4483del XP_011520841.1:n.-29+4482_-29+4483del
XM_005255374.4:c.83_84del XP_005255431.1:p.Lys28ThrfsTer10
NM_000303.3:c.332_333del MANE Select NP_000294.1:p.Lys111ThrfsTer10