Canonical Allele Identifier: CA2206158238

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848011_8848013delinsACT , CM000678.2:g.8848011_8848013delinsACT	GRCh38
NC_000016.9:g.8941868_8941870delinsACT , CM000678.1:g.8941868_8941870delinsACT	GRCh37
NC_000016.8:g.8849369_8849371delinsACT	NCBI36
NG_009209.1:g.55199_55201delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4095_4097delinsACT
ENST00000682393.1:c.*258-1358_*258-1356delinsACT	ENSP00000506774.1:n.*258-1358_*258-1356delinsACT
ENST00000683094.1:c.*262-1358_*262-1356delinsACT	ENSP00000508230.1:n.*262-1358_*262-1356delinsACT
ENST00000683274.1:c.*180-1358_*180-1356delinsACT	ENSP00000507262.1:n.*180-1358_*180-1356delinsACT
ENST00000268261.9:c.*186_*188delinsACT MANE Select	ENSP00000268261.4:n.*186_*188delinsACT
ENST00000268261.8:c.*186_*188delinsACT	ENSP00000268261.4:n.*186_*188delinsACT
ENST00000562025.1:n.461_463delinsACT
ENST00000562318.5:c.*649_*651delinsACT	ENSP00000454395.1:n.*649_*651delinsACT
ENST00000565221.5:c.*545_*547delinsACT	ENSP00000457932.1:n.*545_*547delinsACT
ENST00000566540.5:c.*549_*551delinsACT	ENSP00000454284.1:n.*549_*551delinsACT
ENST00000566604.5:c.*467_*469delinsACT	ENSP00000456774.1:n.*467_*469delinsACT
ENST00000567697.1:n.4095_4097delinsACT
ENST00000569958.5:c.*186_*188delinsACT	ENSP00000456302.1:n.*186_*188delinsACT
ENST00000570076.5:c.*385_*387delinsACT	ENSP00000456961.1:n.*385_*387delinsACT
NM_000303.2:c.*186_*188delinsACT	NP_000294.1:n.*186_*188delinsACT
XM_005255374.3:c.*186_*188delinsACT	XP_005255431.1:n.*186_*188delinsACT
XM_011522538.1:c.640-7023_640-7021delinsACT	XP_011520840.1:n.640-7023_640-7021delinsACT
XM_005255374.4:c.*186_*188delinsACT	XP_005255431.1:n.*186_*188delinsACT
NM_000303.3:c.*186_*188delinsACT MANE Select	NP_000294.1:n.*186_*188delinsACT