Canonical Allele Identifier: CA2695222815
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797914_8797915delinsGT , CM000678.2:g.8797914_8797915delinsGT GRCh38
NC_000016.9:g.8891771_8891772delinsGT , CM000678.1:g.8891771_8891772delinsGT GRCh37
NC_000016.8:g.8799272_8799273delinsGT NCBI36
NG_009209.1:g.5102_5103delinsGT
NG_033146.1:g.4734_4735delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.32_33delinsGT ENSP00000507849.1:p.Phe11Cys
ENST00000682393.1:c.32_33delinsGT ENSP00000506774.1:p.Phe11Cys
ENST00000683094.1:c.32_33delinsGT ENSP00000508230.1:p.Phe11Cys
ENST00000683274.1:c.32_33delinsGT ENSP00000507262.1:p.Phe11Cys
ENST00000683435.1:c.32_33delinsGT ENSP00000508092.1:p.Phe11Cys
ENST00000268261.9:c.32_33delinsGT MANE Select ENSP00000268261.4:p.Phe11Cys
ENST00000268261.8:c.32_33delinsGT ENSP00000268261.4:p.Phe11Cys
ENST00000562318.5:c.32_33delinsGT ENSP00000454395.1:p.Phe11Cys
ENST00000562448.1:n.73_74delinsGT
ENST00000564030.5:n.94_95delinsGT
ENST00000564069.1:c.3_4delinsGT
ENST00000565221.5:c.32_33delinsGT ENSP00000457932.1:p.Phe11Cys
ENST00000565896.5:c.32_33delinsGT ENSP00000456024.1:p.Phe11Cys
ENST00000566196.5:n.76_77delinsGT
ENST00000566540.5:c.32_33delinsGT ENSP00000454284.1:p.Phe11Cys
ENST00000566604.5:c.32_33delinsGT ENSP00000456774.1:p.Phe11Cys
ENST00000566983.5:c.-15-3885_-15-3884delinsGT ENSP00000457956.1:n.-15-3885_-15-3884delinsGT
ENST00000568602.5:c.32_33delinsGT ENSP00000455066.1:p.Phe11Cys
ENST00000569958.5:c.32_33delinsGT ENSP00000456302.1:p.Phe11Cys
ENST00000570076.5:c.32_33delinsGT ENSP00000456961.1:p.Phe11Cys
ENST00000570134.5:c.32_33delinsGT ENSP00000456275.1:p.Phe11Cys
NM_000303.2:c.32_33delinsGT NP_000294.1:p.Phe11Cys
XM_005255372.3:c.32_33delinsGT XP_005255429.1:p.Phe11Cys
XM_005255373.3:c.-141_-140delinsGT XP_005255430.1:n.-141_-140delinsGT
XM_005255374.3:c.-141_-140delinsGT XP_005255431.1:n.-141_-140delinsGT
XM_011522538.1:c.32_33delinsGT XP_011520840.1:p.Phe11Cys
XM_005255374.4:c.-141_-140delinsGT XP_005255431.1:n.-141_-140delinsGT
NM_000303.3:c.32_33delinsGT MANE Select NP_000294.1:p.Phe11Cys