Canonical Allele Identifier: CA2206132338

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804828_8804830delinsACT , CM000678.2:g.8804828_8804830delinsACT	GRCh38
NC_000016.9:g.8898685_8898687delinsACT , CM000678.1:g.8898685_8898687delinsACT	GRCh37
NC_000016.8:g.8806186_8806188delinsACT	NCBI36
NG_009209.1:g.12016_12018delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.240_242delinsACT	ENSP00000507849.1:p.Lys80=
ENST00000682393.1:c.178+2918_178+2920delinsACT	ENSP00000506774.1:n.178+2918_178+2920delinsACT
ENST00000683094.1:c.179-1488_179-1486delinsACT	ENSP00000508230.1:n.179-1488_179-1486delinsACT
ENST00000683274.1:c.240_242delinsACT	ENSP00000507262.1:p.Lys80=
ENST00000683435.1:c.*236_*238delinsACT	ENSP00000508092.1:n.*236_*238delinsACT
ENST00000268261.9:c.240_242delinsACT MANE Select	ENSP00000268261.4:p.Lys80=
ENST00000268261.8:c.240_242delinsACT	ENSP00000268261.4:p.Lys80=
ENST00000562318.5:c.179-1488_179-1486delinsACT	ENSP00000454395.1:n.179-1488_179-1486delinsACT
ENST00000562448.1:n.220-1488_220-1486delinsACT
ENST00000564030.5:n.302_304delinsACT
ENST00000564069.1:c.211_213delinsACT
ENST00000565221.5:c.178+2918_178+2920delinsACT	ENSP00000457932.1:n.178+2918_178+2920delinsACT
ENST00000565896.5:c.*145+2439_*145+2441delinsACT	ENSP00000456024.1:n.*145+2439_*145+2441delinsACT
ENST00000566540.5:c.179-1488_179-1486delinsACT	ENSP00000454284.1:n.179-1488_179-1486delinsACT
ENST00000566604.5:c.240_242delinsACT	ENSP00000456774.1:p.Lys80=
ENST00000566983.5:c.159_161delinsACT	ENSP00000457956.1:p.Lys53=
ENST00000568602.5:c.*93_*95delinsACT	ENSP00000455066.1:n.*93_*95delinsACT
ENST00000569958.5:c.178+2918_178+2920delinsACT	ENSP00000456302.1:n.178+2918_178+2920delinsACT
ENST00000570076.5:c.178+2918_178+2920delinsACT	ENSP00000456961.1:n.178+2918_178+2920delinsACT
ENST00000570134.5:c.179-1488_179-1486delinsACT	ENSP00000456275.1:n.179-1488_179-1486delinsACT
NM_000303.2:c.240_242delinsACT	NP_000294.1:p.Lys80=
XM_005255372.3:c.240_242delinsACT	XP_005255429.1:p.Lys80=
XM_005255373.3:c.7-1488_7-1486delinsACT	XP_005255430.1:n.7-1488_7-1486delinsACT
XM_005255374.3:c.7-1488_7-1486delinsACT	XP_005255431.1:n.7-1488_7-1486delinsACT
XM_011522538.1:c.240_242delinsACT	XP_011520840.1:p.Lys80=
XM_011522539.1:c.-29+2918_-29+2920delinsACT	XP_011520841.1:n.-29+2918_-29+2920delinsACT
XM_005255374.4:c.7-1488_7-1486delinsACT	XP_005255431.1:n.7-1488_7-1486delinsACT
NM_000303.3:c.240_242delinsACT MANE Select	NP_000294.1:p.Lys80=