Canonical Allele Identifier: CA2631646164

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848005-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848006del , CM000678.2:g.8848006del	GRCh38
NC_000016.9:g.8941863del , CM000678.1:g.8941863del	GRCh37
NC_000016.8:g.8849364del	NCBI36
NG_009209.1:g.55194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4090del
ENST00000682393.1:c.*258-1363del	ENSP00000506774.1:n.*258-1363del
ENST00000683094.1:c.*262-1363del	ENSP00000508230.1:n.*262-1363del
ENST00000683274.1:c.*180-1363del	ENSP00000507262.1:n.*180-1363del
ENST00000268261.9:c.*181del MANE Select	ENSP00000268261.4:n.*181del
ENST00000268261.8:c.*181del	ENSP00000268261.4:n.*181del
ENST00000562025.1:n.456del
ENST00000562318.5:c.*644del	ENSP00000454395.1:n.*644del
ENST00000565221.5:c.*540del	ENSP00000457932.1:n.*540del
ENST00000566540.5:c.*544del	ENSP00000454284.1:n.*544del
ENST00000566604.5:c.*462del	ENSP00000456774.1:n.*462del
ENST00000567697.1:n.4090del
ENST00000569958.5:c.*181del	ENSP00000456302.1:n.*181del
ENST00000570076.5:c.*380del	ENSP00000456961.1:n.*380del
NM_000303.2:c.*181del	NP_000294.1:n.*181del
XM_005255374.3:c.*181del	XP_005255431.1:n.*181del
XM_011522538.1:c.640-7028del	XP_011520840.1:n.640-7028del
XM_005255374.4:c.*181del	XP_005255431.1:n.*181del
NM_000303.3:c.*181del MANE Select	NP_000294.1:n.*181del