Canonical Allele Identifier: CA2206133190

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806343_8806344delinsCT , CM000678.2:g.8806343_8806344delinsCT	GRCh38
NC_000016.9:g.8900200_8900201delinsCT , CM000678.1:g.8900200_8900201delinsCT	GRCh37
NC_000016.8:g.8807701_8807702delinsCT	NCBI36
NG_009209.1:g.13531_13532delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.283_284delinsCT	ENSP00000507849.1:p.Leu95=
ENST00000682393.1:c.178+4433_178+4434delinsCT	ENSP00000506774.1:n.178+4433_178+4434delinsCT
ENST00000683094.1:c.*5_*6delinsCT	ENSP00000508230.1:n.*5_*6delinsCT
ENST00000683274.1:c.283_284delinsCT	ENSP00000507262.1:p.Leu95=
ENST00000683435.1:c.*279_*280delinsCT	ENSP00000508092.1:n.*279_*280delinsCT
ENST00000268261.9:c.283_284delinsCT MANE Select	ENSP00000268261.4:p.Leu95=
ENST00000268261.8:c.283_284delinsCT	ENSP00000268261.4:p.Leu95=
ENST00000562318.5:c.*5_*6delinsCT	ENSP00000454395.1:n.*5_*6delinsCT
ENST00000562448.1:n.247_248delinsCT
ENST00000564030.5:n.345_346delinsCT
ENST00000564069.1:c.254_255delinsCT
ENST00000565221.5:c.178+4433_178+4434delinsCT	ENSP00000457932.1:n.178+4433_178+4434delinsCT
ENST00000565896.5:c.*145+3954_*145+3955delinsCT	ENSP00000456024.1:n.*145+3954_*145+3955delinsCT
ENST00000566540.5:c.*5_*6delinsCT	ENSP00000454284.1:n.*5_*6delinsCT
ENST00000566604.5:c.283_284delinsCT	ENSP00000456774.1:p.Leu95=
ENST00000566983.5:c.202_203delinsCT	ENSP00000457956.1:p.Leu68=
ENST00000568602.5:c.*136_*137delinsCT	ENSP00000455066.1:n.*136_*137delinsCT
ENST00000569958.5:c.178+4433_178+4434delinsCT	ENSP00000456302.1:n.178+4433_178+4434delinsCT
ENST00000570076.5:c.178+4433_178+4434delinsCT	ENSP00000456961.1:n.178+4433_178+4434delinsCT
ENST00000570134.5:c.*5_*6delinsCT	ENSP00000456275.1:n.*5_*6delinsCT
NM_000303.2:c.283_284delinsCT	NP_000294.1:p.Leu95=
XM_005255372.3:c.283_284delinsCT	XP_005255429.1:p.Leu95=
XM_005255373.3:c.34_35delinsCT	XP_005255430.1:p.Leu12=
XM_005255374.3:c.34_35delinsCT	XP_005255431.1:p.Leu12=
XM_011522538.1:c.283_284delinsCT	XP_011520840.1:p.Leu95=
XM_011522539.1:c.-29+4433_-29+4434delinsCT	XP_011520841.1:n.-29+4433_-29+4434delinsCT
XM_005255374.4:c.34_35delinsCT	XP_005255431.1:p.Leu12=
NM_000303.3:c.283_284delinsCT MANE Select	NP_000294.1:p.Leu95=