Canonical Allele Identifier: CA2631646235

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848066-ACCCCCAGCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848068_8848078del , CM000678.2:g.8848068_8848078del	GRCh38
NC_000016.9:g.8941925_8941935del , CM000678.1:g.8941925_8941935del	GRCh37
NC_000016.8:g.8849426_8849436del	NCBI36
NG_009209.1:g.55256_55266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4152_4162del
ENST00000682393.1:c.*258-1301_*258-1291del	ENSP00000506774.1:n.*258-1301_*258-1291del
ENST00000683094.1:c.*262-1301_*262-1291del	ENSP00000508230.1:n.*262-1301_*262-1291del
ENST00000683274.1:c.*180-1301_*180-1291del	ENSP00000507262.1:n.*180-1301_*180-1291del
ENST00000268261.9:c.*243_*253del MANE Select	ENSP00000268261.4:n.*243_*253del
ENST00000268261.8:c.*243_*253del	ENSP00000268261.4:n.*243_*253del
ENST00000562025.1:n.518_528del
ENST00000566540.5:c.*606_*616del	ENSP00000454284.1:n.*606_*616del
ENST00000566604.5:c.*524_*534del	ENSP00000456774.1:n.*524_*534del
ENST00000567697.1:n.4152_4162del
ENST00000570076.5:c.*442_*452del	ENSP00000456961.1:n.*442_*452del
NM_000303.2:c.*243_*253del	NP_000294.1:n.*243_*253del
XM_005255374.3:c.*243_*253del	XP_005255431.1:n.*243_*253del
XM_011522538.1:c.640-6966_640-6956del	XP_011520840.1:n.640-6966_640-6956del
XM_005255374.4:c.*243_*253del	XP_005255431.1:n.*243_*253del
NM_000303.3:c.*243_*253del MANE Select	NP_000294.1:n.*243_*253del