Canonical Allele Identifier: CA974429391

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848073-G-GCCCCC
• gnomAD v4: 16-8848073-G-GCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848074_8848078dup , CM000678.2:g.8848074_8848078dup	GRCh38
NC_000016.9:g.8941931_8941935dup , CM000678.1:g.8941931_8941935dup	GRCh37
NC_000016.8:g.8849432_8849436dup	NCBI36
NG_009209.1:g.55262_55266dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4158_4162dup
ENST00000682393.1:c.*258-1295_*258-1291dup	ENSP00000506774.1:n.*258-1295_*258-1291dup
ENST00000683094.1:c.*262-1295_*262-1291dup	ENSP00000508230.1:n.*262-1295_*262-1291dup
ENST00000683274.1:c.*180-1295_*180-1291dup	ENSP00000507262.1:n.*180-1295_*180-1291dup
ENST00000268261.9:c.*249_*253dup MANE Select	ENSP00000268261.4:n.*249_*253dup
ENST00000268261.8:c.*249_*253dup	ENSP00000268261.4:n.*249_*253dup
ENST00000562025.1:n.524_528dup
ENST00000566540.5:c.*612_*616dup	ENSP00000454284.1:n.*612_*616dup
ENST00000566604.5:c.*530_*534dup	ENSP00000456774.1:n.*530_*534dup
ENST00000567697.1:n.4158_4162dup
ENST00000570076.5:c.*448_*452dup	ENSP00000456961.1:n.*448_*452dup
NM_000303.2:c.*249_*253dup	NP_000294.1:n.*249_*253dup
XM_005255374.3:c.*249_*253dup	XP_005255431.1:n.*249_*253dup
XM_011522538.1:c.640-6960_640-6956dup	XP_011520840.1:n.640-6960_640-6956dup
XM_005255374.4:c.*249_*253dup	XP_005255431.1:n.*249_*253dup
NM_000303.3:c.*249_*253dup MANE Select	NP_000294.1:n.*249_*253dup