Canonical Allele Identifier: CA2631646261

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848088-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848091del , CM000678.2:g.8848091del	GRCh38
NC_000016.9:g.8941948del , CM000678.1:g.8941948del	GRCh37
NC_000016.8:g.8849449del	NCBI36
NG_009209.1:g.55279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4175del
ENST00000682393.1:c.*258-1278del	ENSP00000506774.1:n.*258-1278del
ENST00000683094.1:c.*262-1278del	ENSP00000508230.1:n.*262-1278del
ENST00000683274.1:c.*180-1278del	ENSP00000507262.1:n.*180-1278del
ENST00000268261.9:c.*266del MANE Select	ENSP00000268261.4:n.*266del
ENST00000268261.8:c.*266del	ENSP00000268261.4:n.*266del
ENST00000562025.1:n.541del
ENST00000566540.5:c.*629del	ENSP00000454284.1:n.*629del
ENST00000566604.5:c.*547del	ENSP00000456774.1:n.*547del
ENST00000567697.1:n.4175del
ENST00000570076.5:c.*465del	ENSP00000456961.1:n.*465del
NM_000303.2:c.*266del	NP_000294.1:n.*266del
XM_005255374.3:c.*266del	XP_005255431.1:n.*266del
XM_011522538.1:c.640-6943del	XP_011520840.1:n.640-6943del
XM_005255374.4:c.*266del	XP_005255431.1:n.*266del
NM_000303.3:c.*266del MANE Select	NP_000294.1:n.*266del