Canonical Allele Identifier: CA2999504744

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847801dup , CM000678.2:g.8847801dup	GRCh38
NC_000016.9:g.8941658dup , CM000678.1:g.8941658dup	GRCh37
NC_000016.8:g.8849159dup	NCBI36
NG_009209.1:g.54989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3885dup
ENST00000682393.1:c.*258-1568dup	ENSP00000506774.1:n.*258-1568dup
ENST00000683094.1:c.*262-1568dup	ENSP00000508230.1:n.*262-1568dup
ENST00000683274.1:c.*180-1568dup	ENSP00000507262.1:n.*180-1568dup
ENST00000683435.1:c.*613dup	ENSP00000508092.1:n.*613dup
ENST00000268261.9:c.717dup MANE Select	ENSP00000268261.4:p.Ile240AspfsTer3
ENST00000268261.8:c.717dup	ENSP00000268261.4:p.Ile240AspfsTer3
ENST00000562025.1:n.251dup
ENST00000562318.5:c.*439dup	ENSP00000454395.1:n.*439dup
ENST00000565221.5:c.*335dup	ENSP00000457932.1:n.*335dup
ENST00000566540.5:c.*339dup	ENSP00000454284.1:n.*339dup
ENST00000566604.5:c.*257dup	ENSP00000456774.1:n.*257dup
ENST00000566983.5:c.636dup	ENSP00000457956.1:p.Ile213AspfsTer3
ENST00000567697.1:n.3885dup
ENST00000569958.5:c.444dup	ENSP00000456302.1:p.Ile149AspfsTer3
ENST00000570076.5:c.*175dup	ENSP00000456961.1:n.*175dup
NM_000303.2:c.717dup	NP_000294.1:p.Ile240AspfsTer3
XM_005255374.3:c.468dup	XP_005255431.1:p.Ile157AspfsTer3
XM_011522538.1:c.640-7233dup	XP_011520840.1:n.640-7233dup
XM_005255374.4:c.468dup	XP_005255431.1:p.Ile157AspfsTer3
NM_000303.3:c.717dup MANE Select	NP_000294.1:p.Ile240AspfsTer3