Canonical Allele Identifier: CA2805787669

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848000_8848002del , CM000678.2:g.8848000_8848002del	GRCh38
NC_000016.9:g.8941857_8941859del , CM000678.1:g.8941857_8941859del	GRCh37
NC_000016.8:g.8849358_8849360del	NCBI36
NG_009209.1:g.55188_55190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4084_4086del
ENST00000682393.1:c.*258-1369_*258-1367del	ENSP00000506774.1:n.*258-1369_*258-1367del
ENST00000683094.1:c.*262-1369_*262-1367del	ENSP00000508230.1:n.*262-1369_*262-1367del
ENST00000683274.1:c.*180-1369_*180-1367del	ENSP00000507262.1:n.*180-1369_*180-1367del
ENST00000268261.9:c.*175_*177del MANE Select	ENSP00000268261.4:n.*175_*177del
ENST00000268261.8:c.*175_*177del	ENSP00000268261.4:n.*175_*177del
ENST00000562025.1:n.450_452del
ENST00000562318.5:c.*638_*640del	ENSP00000454395.1:n.*638_*640del
ENST00000565221.5:c.*534_*536del	ENSP00000457932.1:n.*534_*536del
ENST00000566540.5:c.*538_*540del	ENSP00000454284.1:n.*538_*540del
ENST00000566604.5:c.*456_*458del	ENSP00000456774.1:n.*456_*458del
ENST00000567697.1:n.4084_4086del
ENST00000569958.5:c.*175_*177del	ENSP00000456302.1:n.*175_*177del
ENST00000570076.5:c.*374_*376del	ENSP00000456961.1:n.*374_*376del
NM_000303.2:c.*175_*177del	NP_000294.1:n.*175_*177del
XM_005255374.3:c.*175_*177del	XP_005255431.1:n.*175_*177del
XM_011522538.1:c.640-7034_640-7032del	XP_011520840.1:n.640-7034_640-7032del
XM_005255374.4:c.*175_*177del	XP_005255431.1:n.*175_*177del
NM_000303.3:c.*175_*177del MANE Select	NP_000294.1:n.*175_*177del