Canonical Allele Identifier: CA2206158275

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848066_8848067delinsAC , CM000678.2:g.8848066_8848067delinsAC	GRCh38
NC_000016.9:g.8941923_8941924delinsAC , CM000678.1:g.8941923_8941924delinsAC	GRCh37
NC_000016.8:g.8849424_8849425delinsAC	NCBI36
NG_009209.1:g.55254_55255delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4150_4151delinsAC
ENST00000682393.1:c.*258-1303_*258-1302delinsAC	ENSP00000506774.1:n.*258-1303_*258-1302delinsAC
ENST00000683094.1:c.*262-1303_*262-1302delinsAC	ENSP00000508230.1:n.*262-1303_*262-1302delinsAC
ENST00000683274.1:c.*180-1303_*180-1302delinsAC	ENSP00000507262.1:n.*180-1303_*180-1302delinsAC
ENST00000268261.9:c.*241_*242delinsAC MANE Select	ENSP00000268261.4:n.*241_*242delinsAC
ENST00000268261.8:c.*241_*242delinsAC	ENSP00000268261.4:n.*241_*242delinsAC
ENST00000562025.1:n.516_517delinsAC
ENST00000566540.5:c.*604_*605delinsAC	ENSP00000454284.1:n.*604_*605delinsAC
ENST00000566604.5:c.*522_*523delinsAC	ENSP00000456774.1:n.*522_*523delinsAC
ENST00000567697.1:n.4150_4151delinsAC
ENST00000570076.5:c.*440_*441delinsAC	ENSP00000456961.1:n.*440_*441delinsAC
NM_000303.2:c.*241_*242delinsAC	NP_000294.1:n.*241_*242delinsAC
XM_005255374.3:c.*241_*242delinsAC	XP_005255431.1:n.*241_*242delinsAC
XM_011522538.1:c.640-6968_640-6967delinsAC	XP_011520840.1:n.640-6968_640-6967delinsAC
XM_005255374.4:c.*241_*242delinsAC	XP_005255431.1:n.*241_*242delinsAC
NM_000303.3:c.*241_*242delinsAC MANE Select	NP_000294.1:n.*241_*242delinsAC