Canonical Allele Identifier: CA2631646135

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847948-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847950del , CM000678.2:g.8847950del	GRCh38
NC_000016.9:g.8941807del , CM000678.1:g.8941807del	GRCh37
NC_000016.8:g.8849308del	NCBI36
NG_009209.1:g.55138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4034del
ENST00000682393.1:c.*258-1419del	ENSP00000506774.1:n.*258-1419del
ENST00000683094.1:c.*262-1419del	ENSP00000508230.1:n.*262-1419del
ENST00000683274.1:c.*180-1419del	ENSP00000507262.1:n.*180-1419del
ENST00000683435.1:c.*762del	ENSP00000508092.1:n.*762del
ENST00000268261.9:c.*125del MANE Select	ENSP00000268261.4:n.*125del
ENST00000268261.8:c.*125del	ENSP00000268261.4:n.*125del
ENST00000562025.1:n.400del
ENST00000562318.5:c.*588del	ENSP00000454395.1:n.*588del
ENST00000565221.5:c.*484del	ENSP00000457932.1:n.*484del
ENST00000566540.5:c.*488del	ENSP00000454284.1:n.*488del
ENST00000566604.5:c.*406del	ENSP00000456774.1:n.*406del
ENST00000567697.1:n.4034del
ENST00000569958.5:c.*125del	ENSP00000456302.1:n.*125del
ENST00000570076.5:c.*324del	ENSP00000456961.1:n.*324del
NM_000303.2:c.*125del	NP_000294.1:n.*125del
XM_005255374.3:c.*125del	XP_005255431.1:n.*125del
XM_011522538.1:c.640-7084del	XP_011520840.1:n.640-7084del
XM_005255374.4:c.*125del	XP_005255431.1:n.*125del
NM_000303.3:c.*125del MANE Select	NP_000294.1:n.*125del