Canonical Allele Identifier: CA2575906420
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806341_8806345del , CM000678.2:g.8806341_8806345del GRCh38
NC_000016.9:g.8900198_8900202del , CM000678.1:g.8900198_8900202del GRCh37
NC_000016.8:g.8807699_8807703del NCBI36
NG_009209.1:g.13529_13533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.281_285del ENSP00000507849.1:p.Ala94AspfsTer16
ENST00000682393.1:c.178+4431_178+4435del ENSP00000506774.1:n.178+4431_178+4435del
ENST00000683094.1:c.*3_*7del ENSP00000508230.1:n.*3_*7del
ENST00000683274.1:c.281_285del ENSP00000507262.1:p.Ala94AspfsTer16
ENST00000683435.1:c.*277_*281del ENSP00000508092.1:n.*277_*281del
ENST00000268261.9:c.281_285del MANE Select ENSP00000268261.4:p.Ala94AspfsTer16
ENST00000268261.8:c.281_285del ENSP00000268261.4:p.Ala94AspfsTer16
ENST00000562318.5:c.*3_*7del ENSP00000454395.1:n.*3_*7del
ENST00000562448.1:n.245_249del
ENST00000564030.5:n.343_347del
ENST00000564069.1:c.252_256del
ENST00000565221.5:c.178+4431_178+4435del ENSP00000457932.1:n.178+4431_178+4435del
ENST00000565896.5:c.*145+3952_*145+3956del ENSP00000456024.1:n.*145+3952_*145+3956del
ENST00000566540.5:c.*3_*7del ENSP00000454284.1:n.*3_*7del
ENST00000566604.5:c.281_285del ENSP00000456774.1:p.Ala94AspfsTer16
ENST00000566983.5:c.200_204del ENSP00000457956.1:p.Ala67AspfsTer16
ENST00000568602.5:c.*134_*138del ENSP00000455066.1:n.*134_*138del
ENST00000569958.5:c.178+4431_178+4435del ENSP00000456302.1:n.178+4431_178+4435del
ENST00000570076.5:c.178+4431_178+4435del ENSP00000456961.1:n.178+4431_178+4435del
ENST00000570134.5:c.*3_*7del ENSP00000456275.1:n.*3_*7del
NM_000303.2:c.281_285del NP_000294.1:p.Ala94AspfsTer16
XM_005255372.3:c.281_285del XP_005255429.1:p.Ala94AspfsTer16
XM_005255373.3:c.32_36del XP_005255430.1:p.Ala11AspfsTer16
XM_005255374.3:c.32_36del XP_005255431.1:p.Ala11AspfsTer16
XM_011522538.1:c.281_285del XP_011520840.1:p.Ala94AspfsTer16
XM_011522539.1:c.-29+4431_-29+4435del XP_011520841.1:n.-29+4431_-29+4435del
XM_005255374.4:c.32_36del XP_005255431.1:p.Ala11AspfsTer16
NM_000303.3:c.281_285del MANE Select NP_000294.1:p.Ala94AspfsTer16