Canonical Allele Identifier: CA2206158132

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847848_8847849delinsTC , CM000678.2:g.8847848_8847849delinsTC	GRCh38
NC_000016.9:g.8941705_8941706delinsTC , CM000678.1:g.8941705_8941706delinsTC	GRCh37
NC_000016.8:g.8849206_8849207delinsTC	NCBI36
NG_009209.1:g.55036_55037delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3932_3933delinsTC
ENST00000682393.1:c.*258-1521_*258-1520delinsTC	ENSP00000506774.1:n.*258-1521_*258-1520delinsTC
ENST00000683094.1:c.*262-1521_*262-1520delinsTC	ENSP00000508230.1:n.*262-1521_*262-1520delinsTC
ENST00000683274.1:c.*180-1521_*180-1520delinsTC	ENSP00000507262.1:n.*180-1521_*180-1520delinsTC
ENST00000683435.1:c.*660_*661delinsTC	ENSP00000508092.1:n.*660_*661delinsTC
ENST00000268261.9:c.*23_*24delinsTC MANE Select	ENSP00000268261.4:n.*23_*24delinsTC
ENST00000268261.8:c.*23_*24delinsTC	ENSP00000268261.4:n.*23_*24delinsTC
ENST00000562025.1:n.298_299delinsTC
ENST00000562318.5:c.*486_*487delinsTC	ENSP00000454395.1:n.*486_*487delinsTC
ENST00000565221.5:c.*382_*383delinsTC	ENSP00000457932.1:n.*382_*383delinsTC
ENST00000566540.5:c.*386_*387delinsTC	ENSP00000454284.1:n.*386_*387delinsTC
ENST00000566604.5:c.*304_*305delinsTC	ENSP00000456774.1:n.*304_*305delinsTC
ENST00000566983.5:c.*23_*24delinsTC	ENSP00000457956.1:n.*23_*24delinsTC
ENST00000567697.1:n.3932_3933delinsTC
ENST00000569958.5:c.*23_*24delinsTC	ENSP00000456302.1:n.*23_*24delinsTC
ENST00000570076.5:c.*222_*223delinsTC	ENSP00000456961.1:n.*222_*223delinsTC
NM_000303.2:c.*23_*24delinsTC	NP_000294.1:n.*23_*24delinsTC
XM_005255374.3:c.*23_*24delinsTC	XP_005255431.1:n.*23_*24delinsTC
XM_011522538.1:c.640-7186_640-7185delinsTC	XP_011520840.1:n.640-7186_640-7185delinsTC
XM_005255374.4:c.*23_*24delinsTC	XP_005255431.1:n.*23_*24delinsTC
NM_000303.3:c.*23_*24delinsTC MANE Select	NP_000294.1:n.*23_*24delinsTC