Canonical Allele Identifier: CA2206158292

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848071_8848073delinsCAG , CM000678.2:g.8848071_8848073delinsCAG	GRCh38
NC_000016.9:g.8941928_8941930delinsCAG , CM000678.1:g.8941928_8941930delinsCAG	GRCh37
NC_000016.8:g.8849429_8849431delinsCAG	NCBI36
NG_009209.1:g.55259_55261delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4155_4157delinsCAG
ENST00000682393.1:c.*258-1298_*258-1296delinsCAG	ENSP00000506774.1:n.*258-1298_*258-1296delinsCAG
ENST00000683094.1:c.*262-1298_*262-1296delinsCAG	ENSP00000508230.1:n.*262-1298_*262-1296delinsCAG
ENST00000683274.1:c.*180-1298_*180-1296delinsCAG	ENSP00000507262.1:n.*180-1298_*180-1296delinsCAG
ENST00000268261.9:c.*246_*248delinsCAG MANE Select	ENSP00000268261.4:n.*246_*248delinsCAG
ENST00000268261.8:c.*246_*248delinsCAG	ENSP00000268261.4:n.*246_*248delinsCAG
ENST00000562025.1:n.521_523delinsCAG
ENST00000566540.5:c.*609_*611delinsCAG	ENSP00000454284.1:n.*609_*611delinsCAG
ENST00000566604.5:c.*527_*529delinsCAG	ENSP00000456774.1:n.*527_*529delinsCAG
ENST00000567697.1:n.4155_4157delinsCAG
ENST00000570076.5:c.*445_*447delinsCAG	ENSP00000456961.1:n.*445_*447delinsCAG
NM_000303.2:c.*246_*248delinsCAG	NP_000294.1:n.*246_*248delinsCAG
XM_005255374.3:c.*246_*248delinsCAG	XP_005255431.1:n.*246_*248delinsCAG
XM_011522538.1:c.640-6963_640-6961delinsCAG	XP_011520840.1:n.640-6963_640-6961delinsCAG
XM_005255374.4:c.*246_*248delinsCAG	XP_005255431.1:n.*246_*248delinsCAG
NM_000303.3:c.*246_*248delinsCAG MANE Select	NP_000294.1:n.*246_*248delinsCAG