Canonical Allele Identifier: CA974429347

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848062-A-ACCCCCCCCC
• gnomAD v4: 16-8848062-A-ACCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848065_8848066insCCCCCCCCC , CM000678.2:g.8848065_8848066insCCCCCCCCC	GRCh38
NC_000016.9:g.8941922_8941923insCCCCCCCCC , CM000678.1:g.8941922_8941923insCCCCCCCCC	GRCh37
NC_000016.8:g.8849423_8849424insCCCCCCCCC	NCBI36
NG_009209.1:g.55253_55254insCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4149_4150insCCCCCCCCC
ENST00000682393.1:c.*258-1304_*258-1303insCCCCCCCCC	ENSP00000506774.1:n.*258-1304_*258-1303insCCCCCCCCC
ENST00000683094.1:c.*262-1304_*262-1303insCCCCCCCCC	ENSP00000508230.1:n.*262-1304_*262-1303insCCCCCCCCC
ENST00000683274.1:c.*180-1304_*180-1303insCCCCCCCCC	ENSP00000507262.1:n.*180-1304_*180-1303insCCCCCCCCC
ENST00000268261.9:c.*240_*241insCCCCCCCCC MANE Select	ENSP00000268261.4:n.*240_*241insCCCCCCCCC
ENST00000268261.8:c.*240_*241insCCCCCCCCC	ENSP00000268261.4:n.*240_*241insCCCCCCCCC
ENST00000562025.1:n.515_516insCCCCCCCCC
ENST00000566540.5:c.*603_*604insCCCCCCCCC	ENSP00000454284.1:n.*603_*604insCCCCCCCCC
ENST00000566604.5:c.*521_*522insCCCCCCCCC	ENSP00000456774.1:n.*521_*522insCCCCCCCCC
ENST00000567697.1:n.4149_4150insCCCCCCCCC
ENST00000570076.5:c.*439_*440insCCCCCCCCC	ENSP00000456961.1:n.*439_*440insCCCCCCCCC
NM_000303.2:c.*240_*241insCCCCCCCCC	NP_000294.1:n.*240_*241insCCCCCCCCC
XM_005255374.3:c.*240_*241insCCCCCCCCC	XP_005255431.1:n.*240_*241insCCCCCCCCC
XM_011522538.1:c.640-6969_640-6968insCCCCCCCCC	XP_011520840.1:n.640-6969_640-6968insCCCCCCCCC
XM_005255374.4:c.*240_*241insCCCCCCCCC	XP_005255431.1:n.*240_*241insCCCCCCCCC
NM_000303.3:c.*240_*241insCCCCCCCCC MANE Select	NP_000294.1:n.*240_*241insCCCCCCCCC