Canonical Allele Identifier: CA2206158286

Gene: PMM2

Linked Data

• dbSNP Id: rs2060940106
• gnomAD v4: 16-8848066-AC-A

Genomic Alleles

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

Transcript Alleles

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