Canonical Allele Identifier: CA2575906421

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806420_8806421insGTTA , CM000678.2:g.8806420_8806421insGTTA	GRCh38
NC_000016.9:g.8900277_8900278insGTTA , CM000678.1:g.8900277_8900278insGTTA	GRCh37
NC_000016.8:g.8807778_8807779insGTTA	NCBI36
NG_009209.1:g.13608_13609insGTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.347+13_347+14insGTTA	ENSP00000507849.1:n.347+13_347+14insGTTA
ENST00000682393.1:c.178+4510_178+4511insGTTA	ENSP00000506774.1:n.178+4510_178+4511insG...
ENST00000683094.1:c.*69+13_*69+14insGTTA	ENSP00000508230.1:n.*69+13_*69+14insGTTA
ENST00000683274.1:c.347+13_347+14insGTTA	ENSP00000507262.1:n.347+13_347+14insGTTA
ENST00000683435.1:c.*343+13_*343+14insGTTA	ENSP00000508092.1:n.*343+13_*343+14insGTT...
ENST00000268261.9:c.347+13_347+14insGTTA MANE Select	ENSP00000268261.4:n.347+13_347+14insGTTA
ENST00000268261.8:c.347+13_347+14insGTTA	ENSP00000268261.4:n.347+13_347+14insGTTA
ENST00000562318.5:c.*69+13_*69+14insGTTA	ENSP00000454395.1:n.*69+13_*69+14insGTTA
ENST00000562448.1:n.324_325insGTTA
ENST00000564030.5:n.422_423insGTTA
ENST00000564069.1:c.318+13_318+14insGTTA
ENST00000565221.5:c.178+4510_178+4511insGTTA	ENSP00000457932.1:n.178+4510_178+4511insG...
ENST00000565896.5:c.*145+4031_*145+4032insGTTA	ENSP00000456024.1:n.*145+4031_*145+4032in...
ENST00000566540.5:c.*69+13_*69+14insGTTA	ENSP00000454284.1:n.*69+13_*69+14insGTTA
ENST00000566604.5:c.347+13_347+14insGTTA	ENSP00000456774.1:n.347+13_347+14insGTTA
ENST00000566983.5:c.266+13_266+14insGTTA	ENSP00000457956.1:n.266+13_266+14insGTTA
ENST00000568602.5:c.*200+13_*200+14insGTTA	ENSP00000455066.1:n.*200+13_*200+14insGTT...
ENST00000569958.5:c.178+4510_178+4511insGTTA	ENSP00000456302.1:n.178+4510_178+4511insG...
ENST00000570076.5:c.178+4510_178+4511insGTTA	ENSP00000456961.1:n.178+4510_178+4511insG...
ENST00000570134.5:c.*69+13_*69+14insGTTA	ENSP00000456275.1:n.*69+13_*69+14insGTTA
NM_000303.2:c.347+13_347+14insGTTA	NP_000294.1:n.347+13_347+14insGTTA
XM_005255372.3:c.347+13_347+14insGTTA	XP_005255429.1:n.347+13_347+14insGTTA
XM_005255373.3:c.98+13_98+14insGTTA	XP_005255430.1:n.98+13_98+14insGTTA
XM_005255374.3:c.98+13_98+14insGTTA	XP_005255431.1:n.98+13_98+14insGTTA
XM_011522538.1:c.347+13_347+14insGTTA	XP_011520840.1:n.347+13_347+14insGTTA
XM_011522539.1:c.-29+4510_-29+4511insGTTA	XP_011520841.1:n.-29+4510_-29+4511insGTTA...
XM_005255374.4:c.98+13_98+14insGTTA	XP_005255431.1:n.98+13_98+14insGTTA
NM_000303.3:c.347+13_347+14insGTTA MANE Select	NP_000294.1:n.347+13_347+14insGTTA