Canonical Allele Identifier: CA2206158228

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847993_8847994delinsTC , CM000678.2:g.8847993_8847994delinsTC	GRCh38
NC_000016.9:g.8941850_8941851delinsTC , CM000678.1:g.8941850_8941851delinsTC	GRCh37
NC_000016.8:g.8849351_8849352delinsTC	NCBI36
NG_009209.1:g.55181_55182delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4077_4078delinsTC
ENST00000682393.1:c.*258-1376_*258-1375delinsTC	ENSP00000506774.1:n.*258-1376_*258-1375delinsTC
ENST00000683094.1:c.*262-1376_*262-1375delinsTC	ENSP00000508230.1:n.*262-1376_*262-1375delinsTC
ENST00000683274.1:c.*180-1376_*180-1375delinsTC	ENSP00000507262.1:n.*180-1376_*180-1375delinsTC
ENST00000268261.9:c.*168_*169delinsTC MANE Select	ENSP00000268261.4:n.*168_*169delinsTC
ENST00000268261.8:c.*168_*169delinsTC	ENSP00000268261.4:n.*168_*169delinsTC
ENST00000562025.1:n.443_444delinsTC
ENST00000562318.5:c.*631_*632delinsTC	ENSP00000454395.1:n.*631_*632delinsTC
ENST00000565221.5:c.*527_*528delinsTC	ENSP00000457932.1:n.*527_*528delinsTC
ENST00000566540.5:c.*531_*532delinsTC	ENSP00000454284.1:n.*531_*532delinsTC
ENST00000566604.5:c.*449_*450delinsTC	ENSP00000456774.1:n.*449_*450delinsTC
ENST00000567697.1:n.4077_4078delinsTC
ENST00000569958.5:c.*168_*169delinsTC	ENSP00000456302.1:n.*168_*169delinsTC
ENST00000570076.5:c.*367_*368delinsTC	ENSP00000456961.1:n.*367_*368delinsTC
NM_000303.2:c.*168_*169delinsTC	NP_000294.1:n.*168_*169delinsTC
XM_005255374.3:c.*168_*169delinsTC	XP_005255431.1:n.*168_*169delinsTC
XM_011522538.1:c.640-7041_640-7040delinsTC	XP_011520840.1:n.640-7041_640-7040delinsTC
XM_005255374.4:c.*168_*169delinsTC	XP_005255431.1:n.*168_*169delinsTC
NM_000303.3:c.*168_*169delinsTC MANE Select	NP_000294.1:n.*168_*169delinsTC