Canonical Allele Identifier: CA2575906678

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847843-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847847del , CM000678.2:g.8847847del	GRCh38
NC_000016.9:g.8941704del , CM000678.1:g.8941704del	GRCh37
NC_000016.8:g.8849205del	NCBI36
NG_009209.1:g.55035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3931del
ENST00000682393.1:c.*258-1522del	ENSP00000506774.1:n.*258-1522del
ENST00000683094.1:c.*262-1522del	ENSP00000508230.1:n.*262-1522del
ENST00000683274.1:c.*180-1522del	ENSP00000507262.1:n.*180-1522del
ENST00000683435.1:c.*659del	ENSP00000508092.1:n.*659del
ENST00000268261.9:c.*22del MANE Select	ENSP00000268261.4:n.*22del
ENST00000268261.8:c.*22del	ENSP00000268261.4:n.*22del
ENST00000562025.1:n.297del
ENST00000562318.5:c.*485del	ENSP00000454395.1:n.*485del
ENST00000565221.5:c.*381del	ENSP00000457932.1:n.*381del
ENST00000566540.5:c.*385del	ENSP00000454284.1:n.*385del
ENST00000566604.5:c.*303del	ENSP00000456774.1:n.*303del
ENST00000566983.5:c.*22del	ENSP00000457956.1:n.*22del
ENST00000567697.1:n.3931del
ENST00000569958.5:c.*22del	ENSP00000456302.1:n.*22del
ENST00000570076.5:c.*221del	ENSP00000456961.1:n.*221del
NM_000303.2:c.*22del	NP_000294.1:n.*22del
XM_005255374.3:c.*22del	XP_005255431.1:n.*22del
XM_011522538.1:c.640-7187del	XP_011520840.1:n.640-7187del
XM_005255374.4:c.*22del	XP_005255431.1:n.*22del
NM_000303.3:c.*22del MANE Select	NP_000294.1:n.*22del