Canonical Allele Identifier: CA2206133215

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806386_8806390delinsAAATT , CM000678.2:g.8806386_8806390delinsAAATT	GRCh38
NC_000016.9:g.8900243_8900247delinsAAATT , CM000678.1:g.8900243_8900247delinsAAATT	GRCh37
NC_000016.8:g.8807744_8807748delinsAAATT	NCBI36
NG_009209.1:g.13574_13578delinsAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.326_330delinsAAATT	ENSP00000507849.1:p.Lys109=
ENST00000682393.1:c.178+4476_178+4480delinsAAATT	ENSP00000506774.1:n.178+4476_178+4480delinsAAATT
ENST00000683094.1:c.*48_*52delinsAAATT	ENSP00000508230.1:n.*48_*52delinsAAATT
ENST00000683274.1:c.326_330delinsAAATT	ENSP00000507262.1:p.Lys109=
ENST00000683435.1:c.*322_*326delinsAAATT	ENSP00000508092.1:n.*322_*326delinsAAATT
ENST00000268261.9:c.326_330delinsAAATT MANE Select	ENSP00000268261.4:p.Lys109=
ENST00000268261.8:c.326_330delinsAAATT	ENSP00000268261.4:p.Lys109=
ENST00000562318.5:c.*48_*52delinsAAATT	ENSP00000454395.1:n.*48_*52delinsAAATT
ENST00000562448.1:n.290_294delinsAAATT
ENST00000564030.5:n.388_392delinsAAATT
ENST00000564069.1:c.297_301delinsAAATT
ENST00000565221.5:c.178+4476_178+4480delinsAAATT	ENSP00000457932.1:n.178+4476_178+4480delinsAAATT
ENST00000565896.5:c.*145+3997_*145+4001delinsAAATT	ENSP00000456024.1:n.*145+3997_*145+4001delinsAAATT
ENST00000566540.5:c.*48_*52delinsAAATT	ENSP00000454284.1:n.*48_*52delinsAAATT
ENST00000566604.5:c.326_330delinsAAATT	ENSP00000456774.1:p.Lys109=
ENST00000566983.5:c.245_249delinsAAATT	ENSP00000457956.1:p.Lys82=
ENST00000568602.5:c.*179_*183delinsAAATT	ENSP00000455066.1:n.*179_*183delinsAAATT
ENST00000569958.5:c.178+4476_178+4480delinsAAATT	ENSP00000456302.1:n.178+4476_178+4480delinsAAATT
ENST00000570076.5:c.178+4476_178+4480delinsAAATT	ENSP00000456961.1:n.178+4476_178+4480delinsAAATT
ENST00000570134.5:c.*48_*52delinsAAATT	ENSP00000456275.1:n.*48_*52delinsAAATT
NM_000303.2:c.326_330delinsAAATT	NP_000294.1:p.Lys109=
XM_005255372.3:c.326_330delinsAAATT	XP_005255429.1:p.Lys109=
XM_005255373.3:c.77_81delinsAAATT	XP_005255430.1:p.Lys26=
XM_005255374.3:c.77_81delinsAAATT	XP_005255431.1:p.Lys26=
XM_011522538.1:c.326_330delinsAAATT	XP_011520840.1:p.Lys109=
XM_011522539.1:c.-29+4476_-29+4480delinsAAATT	XP_011520841.1:n.-29+4476_-29+4480delinsAAATT
XM_005255374.4:c.77_81delinsAAATT	XP_005255431.1:p.Lys26=
NM_000303.3:c.326_330delinsAAATT MANE Select	NP_000294.1:p.Lys109=