Canonical Allele Identifier: CA2206133224

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806398_8806401delinsCGAA , CM000678.2:g.8806398_8806401delinsCGAA	GRCh38
NC_000016.9:g.8900255_8900258delinsCGAA , CM000678.1:g.8900255_8900258delinsCGAA	GRCh37
NC_000016.8:g.8807756_8807759delinsCGAA	NCBI36
NG_009209.1:g.13586_13589delinsCGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682008.1:c.338_341delinsCGAA	ENSP00000507849.1:p.Pro113=
ENST00000682393.1:c.178+4488_178+4491delinsCGAA	ENSP00000506774.1:n.178+4488_178+4491deli...
ENST00000683094.1:c.*60_*63delinsCGAA	ENSP00000508230.1:n.*60_*63delinsCGAA
ENST00000683274.1:c.338_341delinsCGAA	ENSP00000507262.1:p.Pro113=
ENST00000683435.1:c.*334_*337delinsCGAA	ENSP00000508092.1:n.*334_*337delinsCGAA
ENST00000268261.9:c.338_341delinsCGAA MANE Select	ENSP00000268261.4:p.Pro113=
ENST00000268261.8:c.338_341delinsCGAA	ENSP00000268261.4:p.Pro113=
ENST00000562318.5:c.*60_*63delinsCGAA	ENSP00000454395.1:n.*60_*63delinsCGAA
ENST00000562448.1:n.302_305delinsCGAA
ENST00000564030.5:n.400_403delinsCGAA
ENST00000564069.1:c.309_312delinsCGAA
ENST00000565221.5:c.178+4488_178+4491delinsCGAA	ENSP00000457932.1:n.178+4488_178+4491deli...
ENST00000565896.5:c.*145+4009_*145+4012delinsCGAA	ENSP00000456024.1:n.*145+4009_*145+4012de...
ENST00000566540.5:c.*60_*63delinsCGAA	ENSP00000454284.1:n.*60_*63delinsCGAA
ENST00000566604.5:c.338_341delinsCGAA	ENSP00000456774.1:p.Pro113=
ENST00000566983.5:c.257_260delinsCGAA	ENSP00000457956.1:p.Pro86=
ENST00000568602.5:c.*191_*194delinsCGAA	ENSP00000455066.1:n.*191_*194delinsCGAA
ENST00000569958.5:c.178+4488_178+4491delinsCGAA	ENSP00000456302.1:n.178+4488_178+4491deli...
ENST00000570076.5:c.178+4488_178+4491delinsCGAA	ENSP00000456961.1:n.178+4488_178+4491deli...
ENST00000570134.5:c.*60_*63delinsCGAA	ENSP00000456275.1:n.*60_*63delinsCGAA
NM_000303.2:c.338_341delinsCGAA	NP_000294.1:p.Pro113=
XM_005255372.3:c.338_341delinsCGAA	XP_005255429.1:p.Pro113=
XM_005255373.3:c.89_92delinsCGAA	XP_005255430.1:p.Pro30=
XM_005255374.3:c.89_92delinsCGAA	XP_005255431.1:p.Pro30=
XM_011522538.1:c.338_341delinsCGAA	XP_011520840.1:p.Pro113=
XM_011522539.1:c.-29+4488_-29+4491delinsCGAA	XP_011520841.1:n.-29+4488_-29+4491delinsC...
XM_005255374.4:c.89_92delinsCGAA	XP_005255431.1:p.Pro30=
NM_000303.3:c.338_341delinsCGAA MANE Select	NP_000294.1:p.Pro113=