Canonical Allele Identifier: CA2552569881

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804842del , CM000678.2:g.8804842del	GRCh38
NC_000016.9:g.8898699del , CM000678.1:g.8898699del	GRCh37
NC_000016.8:g.8806200del	NCBI36
NG_009209.1:g.12030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.254del	ENSP00000507849.1:p.Gln85ArgfsTer11
ENST00000682393.1:c.178+2932del	ENSP00000506774.1:n.178+2932del
ENST00000683094.1:c.179-1474del	ENSP00000508230.1:n.179-1474del
ENST00000683274.1:c.254del	ENSP00000507262.1:p.Gln85ArgfsTer11
ENST00000683435.1:c.*250del	ENSP00000508092.1:n.*250del
ENST00000268261.9:c.254del MANE Select	ENSP00000268261.4:p.Gln85ArgfsTer11
ENST00000268261.8:c.254del	ENSP00000268261.4:p.Gln85ArgfsTer11
ENST00000562318.5:c.179-1474del	ENSP00000454395.1:n.179-1474del
ENST00000562448.1:n.220-1474del
ENST00000564030.5:n.316del
ENST00000564069.1:c.225del
ENST00000565221.5:c.178+2932del	ENSP00000457932.1:n.178+2932del
ENST00000565896.5:c.*145+2453del	ENSP00000456024.1:n.*145+2453del
ENST00000566540.5:c.179-1474del	ENSP00000454284.1:n.179-1474del
ENST00000566604.5:c.254del	ENSP00000456774.1:p.Gln85ArgfsTer11
ENST00000566983.5:c.173del	ENSP00000457956.1:p.Gln58ArgfsTer11
ENST00000568602.5:c.*107del	ENSP00000455066.1:n.*107del
ENST00000569958.5:c.178+2932del	ENSP00000456302.1:n.178+2932del
ENST00000570076.5:c.178+2932del	ENSP00000456961.1:n.178+2932del
ENST00000570134.5:c.179-1474del	ENSP00000456275.1:n.179-1474del
NM_000303.2:c.254del	NP_000294.1:p.Gln85ArgfsTer11
XM_005255372.3:c.254del	XP_005255429.1:p.Gln85ArgfsTer11
XM_005255373.3:c.7-1474del	XP_005255430.1:n.7-1474del
XM_005255374.3:c.7-1474del	XP_005255431.1:n.7-1474del
XM_011522538.1:c.254del	XP_011520840.1:p.Gln85ArgfsTer11
XM_011522539.1:c.-29+2932del	XP_011520841.1:n.-29+2932del
XM_005255374.4:c.7-1474del	XP_005255431.1:n.7-1474del
NM_000303.3:c.254del MANE Select	NP_000294.1:p.Gln85ArgfsTer11