Canonical Allele Identifier: CA2572410557

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806391_8806392insGGCTGATGTAGC , CM000678.2:g.8806391_8806392insGGCTGATGTAGC	GRCh38
NC_000016.9:g.8900248_8900249insGGCTGATGTAGC , CM000678.1:g.8900248_8900249insGGCTGATGTAGC	GRCh37
NC_000016.8:g.8807749_8807750insGGCTGATGTAGC	NCBI36
NG_009209.1:g.13579_13580insGGCTGATGTAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.331_332insGGCTGATGTAGC	ENSP00000507849.1:p.Lys111ArgfsTer4
ENST00000682393.1:c.178+4481_178+4482insGGCTGATGTAGC	ENSP00000506774.1:n.178+4481_178+4482insGGCTGATGTAGC
ENST00000683094.1:c.*53_*54insGGCTGATGTAGC	ENSP00000508230.1:n.*53_*54insGGCTGATGTAGC
ENST00000683274.1:c.331_332insGGCTGATGTAGC	ENSP00000507262.1:p.Lys111ArgfsTer4
ENST00000683435.1:c.*327_*328insGGCTGATGTAGC	ENSP00000508092.1:n.*327_*328insGGCTGATGTAGC
ENST00000268261.9:c.331_332insGGCTGATGTAGC MANE Select	ENSP00000268261.4:p.Lys111ArgfsTer4
ENST00000268261.8:c.331_332insGGCTGATGTAGC	ENSP00000268261.4:p.Lys111ArgfsTer4
ENST00000562318.5:c.*53_*54insGGCTGATGTAGC	ENSP00000454395.1:n.*53_*54insGGCTGATGTAGC
ENST00000562448.1:n.295_296insGGCTGATGTAGC
ENST00000564030.5:n.393_394insGGCTGATGTAGC
ENST00000564069.1:c.302_303insGGCTGATGTAGC
ENST00000565221.5:c.178+4481_178+4482insGGCTGATGTAGC	ENSP00000457932.1:n.178+4481_178+4482insGGCTGATGTAGC
ENST00000565896.5:c.*145+4002_*145+4003insGGCTGATGTAGC	ENSP00000456024.1:n.*145+4002_*145+4003insGGCTGATGTAGC
ENST00000566540.5:c.*53_*54insGGCTGATGTAGC	ENSP00000454284.1:n.*53_*54insGGCTGATGTAGC
ENST00000566604.5:c.331_332insGGCTGATGTAGC	ENSP00000456774.1:p.Lys111ArgfsTer4
ENST00000566983.5:c.250_251insGGCTGATGTAGC	ENSP00000457956.1:p.Lys84ArgfsTer4
ENST00000568602.5:c.*184_*185insGGCTGATGTAGC	ENSP00000455066.1:n.*184_*185insGGCTGATGTAGC
ENST00000569958.5:c.178+4481_178+4482insGGCTGATGTAGC	ENSP00000456302.1:n.178+4481_178+4482insGGCTGATGTAGC
ENST00000570076.5:c.178+4481_178+4482insGGCTGATGTAGC	ENSP00000456961.1:n.178+4481_178+4482insGGCTGATGTAGC
ENST00000570134.5:c.*53_*54insGGCTGATGTAGC	ENSP00000456275.1:n.*53_*54insGGCTGATGTAGC
NM_000303.2:c.331_332insGGCTGATGTAGC	NP_000294.1:p.Lys111ArgfsTer4
XM_005255372.3:c.331_332insGGCTGATGTAGC	XP_005255429.1:p.Lys111ArgfsTer4
XM_005255373.3:c.82_83insGGCTGATGTAGC	XP_005255430.1:p.Lys28ArgfsTer4
XM_005255374.3:c.82_83insGGCTGATGTAGC	XP_005255431.1:p.Lys28ArgfsTer4
XM_011522538.1:c.331_332insGGCTGATGTAGC	XP_011520840.1:p.Lys111ArgfsTer4
XM_011522539.1:c.-29+4481_-29+4482insGGCTGATGTAGC	XP_011520841.1:n.-29+4481_-29+4482insGGCTGATGTAGC
XM_005255374.4:c.82_83insGGCTGATGTAGC	XP_005255431.1:p.Lys28ArgfsTer4
NM_000303.3:c.331_332insGGCTGATGTAGC MANE Select	NP_000294.1:p.Lys111ArgfsTer4