Canonical Allele Identifier: CA2631646245

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848072-AGCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848073_8848077del , CM000678.2:g.8848073_8848077del	GRCh38
NC_000016.9:g.8941930_8941934del , CM000678.1:g.8941930_8941934del	GRCh37
NC_000016.8:g.8849431_8849435del	NCBI36
NG_009209.1:g.55261_55265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4157_4161del
ENST00000682393.1:c.*258-1296_*258-1292del	ENSP00000506774.1:n.*258-1296_*258-1292del
ENST00000683094.1:c.*262-1296_*262-1292del	ENSP00000508230.1:n.*262-1296_*262-1292del
ENST00000683274.1:c.*180-1296_*180-1292del	ENSP00000507262.1:n.*180-1296_*180-1292del
ENST00000268261.9:c.*248_*252del MANE Select	ENSP00000268261.4:n.*248_*252del
ENST00000268261.8:c.*248_*252del	ENSP00000268261.4:n.*248_*252del
ENST00000562025.1:n.523_527del
ENST00000566540.5:c.*611_*615del	ENSP00000454284.1:n.*611_*615del
ENST00000566604.5:c.*529_*533del	ENSP00000456774.1:n.*529_*533del
ENST00000567697.1:n.4157_4161del
ENST00000570076.5:c.*447_*451del	ENSP00000456961.1:n.*447_*451del
NM_000303.2:c.*248_*252del	NP_000294.1:n.*248_*252del
XM_005255374.3:c.*248_*252del	XP_005255431.1:n.*248_*252del
XM_011522538.1:c.640-6961_640-6957del	XP_011520840.1:n.640-6961_640-6957del
XM_005255374.4:c.*248_*252del	XP_005255431.1:n.*248_*252del
NM_000303.3:c.*248_*252del MANE Select	NP_000294.1:n.*248_*252del