Canonical Allele Identifier: CA2206158301

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848078_8848079delinsCT , CM000678.2:g.8848078_8848079delinsCT	GRCh38
NC_000016.9:g.8941935_8941936delinsCT , CM000678.1:g.8941935_8941936delinsCT	GRCh37
NC_000016.8:g.8849436_8849437delinsCT	NCBI36
NG_009209.1:g.55266_55267delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4162_4163delinsCT
ENST00000682393.1:c.*258-1291_*258-1290delinsCT	ENSP00000506774.1:n.*258-1291_*258-1290delinsCT
ENST00000683094.1:c.*262-1291_*262-1290delinsCT	ENSP00000508230.1:n.*262-1291_*262-1290delinsCT
ENST00000683274.1:c.*180-1291_*180-1290delinsCT	ENSP00000507262.1:n.*180-1291_*180-1290delinsCT
ENST00000268261.9:c.*253_*254delinsCT MANE Select	ENSP00000268261.4:n.*253_*254delinsCT
ENST00000268261.8:c.*253_*254delinsCT	ENSP00000268261.4:n.*253_*254delinsCT
ENST00000562025.1:n.528_529delinsCT
ENST00000566540.5:c.*616_*617delinsCT	ENSP00000454284.1:n.*616_*617delinsCT
ENST00000566604.5:c.*534_*535delinsCT	ENSP00000456774.1:n.*534_*535delinsCT
ENST00000567697.1:n.4162_4163delinsCT
ENST00000570076.5:c.*452_*453delinsCT	ENSP00000456961.1:n.*452_*453delinsCT
NM_000303.2:c.*253_*254delinsCT	NP_000294.1:n.*253_*254delinsCT
XM_005255374.3:c.*253_*254delinsCT	XP_005255431.1:n.*253_*254delinsCT
XM_011522538.1:c.640-6956_640-6955delinsCT	XP_011520840.1:n.640-6956_640-6955delinsCT
XM_005255374.4:c.*253_*254delinsCT	XP_005255431.1:n.*253_*254delinsCT
NM_000303.3:c.*253_*254delinsCT MANE Select	NP_000294.1:n.*253_*254delinsCT