Canonical Allele Identifier: CA2805787683

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848057_8848058insGGCCCC , CM000678.2:g.8848057_8848058insGGCCCC	GRCh38
NC_000016.9:g.8941914_8941915insGGCCCC , CM000678.1:g.8941914_8941915insGGCCCC	GRCh37
NC_000016.8:g.8849415_8849416insGGCCCC	NCBI36
NG_009209.1:g.55245_55246insGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4141_4142insGGCCCC
ENST00000682393.1:c.*258-1312_*258-1311insGGCCCC	ENSP00000506774.1:n.*258-1312_*258-1311insGGCCCC
ENST00000683094.1:c.*262-1312_*262-1311insGGCCCC	ENSP00000508230.1:n.*262-1312_*262-1311insGGCCCC
ENST00000683274.1:c.*180-1312_*180-1311insGGCCCC	ENSP00000507262.1:n.*180-1312_*180-1311insGGCCCC
ENST00000268261.9:c.*232_*233insGGCCCC MANE Select	ENSP00000268261.4:n.*232_*233insGGCCCC
ENST00000268261.8:c.*232_*233insGGCCCC	ENSP00000268261.4:n.*232_*233insGGCCCC
ENST00000562025.1:n.507_508insGGCCCC
ENST00000566540.5:c.*595_*596insGGCCCC	ENSP00000454284.1:n.*595_*596insGGCCCC
ENST00000566604.5:c.*513_*514insGGCCCC	ENSP00000456774.1:n.*513_*514insGGCCCC
ENST00000567697.1:n.4141_4142insGGCCCC
ENST00000570076.5:c.*431_*432insGGCCCC	ENSP00000456961.1:n.*431_*432insGGCCCC
NM_000303.2:c.*232_*233insGGCCCC	NP_000294.1:n.*232_*233insGGCCCC
XM_005255374.3:c.*232_*233insGGCCCC	XP_005255431.1:n.*232_*233insGGCCCC
XM_011522538.1:c.640-6977_640-6976insGGCCCC	XP_011520840.1:n.640-6977_640-6976insGGCCCC
XM_005255374.4:c.*232_*233insGGCCCC	XP_005255431.1:n.*232_*233insGGCCCC
NM_000303.3:c.*232_*233insGGCCCC MANE Select	NP_000294.1:n.*232_*233insGGCCCC