Canonical Allele Identifier: CA974429446

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848083-CTAATA-C
• gnomAD v4: 16-8848083-CTAATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848084_8848088del , CM000678.2:g.8848084_8848088del	GRCh38
NC_000016.9:g.8941941_8941945del , CM000678.1:g.8941941_8941945del	GRCh37
NC_000016.8:g.8849442_8849446del	NCBI36
NG_009209.1:g.55272_55276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4168_4172del
ENST00000682393.1:c.*258-1285_*258-1281del	ENSP00000506774.1:n.*258-1285_*258-1281del
ENST00000683094.1:c.*262-1285_*262-1281del	ENSP00000508230.1:n.*262-1285_*262-1281del
ENST00000683274.1:c.*180-1285_*180-1281del	ENSP00000507262.1:n.*180-1285_*180-1281del
ENST00000268261.9:c.*259_*263del MANE Select	ENSP00000268261.4:n.*259_*263del
ENST00000268261.8:c.*259_*263del	ENSP00000268261.4:n.*259_*263del
ENST00000562025.1:n.534_538del
ENST00000566540.5:c.*622_*626del	ENSP00000454284.1:n.*622_*626del
ENST00000566604.5:c.*540_*544del	ENSP00000456774.1:n.*540_*544del
ENST00000567697.1:n.4168_4172del
ENST00000570076.5:c.*458_*462del	ENSP00000456961.1:n.*458_*462del
NM_000303.2:c.*259_*263del	NP_000294.1:n.*259_*263del
XM_005255374.3:c.*259_*263del	XP_005255431.1:n.*259_*263del
XM_011522538.1:c.640-6950_640-6946del	XP_011520840.1:n.640-6950_640-6946del
XM_005255374.4:c.*259_*263del	XP_005255431.1:n.*259_*263del
NM_000303.3:c.*259_*263del MANE Select	NP_000294.1:n.*259_*263del