Canonical Allele Identifier: CA974429274

Gene: PMM2

Linked Data

• dbSNP Id: rs2060939982
• gnomAD v3: 16-8848057-T-TGCCC
• gnomAD v4: 16-8848057-T-TGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848057_8848058insGCCC , CM000678.2:g.8848057_8848058insGCCC	GRCh38
NC_000016.9:g.8941914_8941915insGCCC , CM000678.1:g.8941914_8941915insGCCC	GRCh37
NC_000016.8:g.8849415_8849416insGCCC	NCBI36
NG_009209.1:g.55245_55246insGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4141_4142insGCCC
ENST00000682393.1:c.*258-1312_*258-1311insGCCC	ENSP00000506774.1:n.*258-1312_*258-1311insGCCC
ENST00000683094.1:c.*262-1312_*262-1311insGCCC	ENSP00000508230.1:n.*262-1312_*262-1311insGCCC
ENST00000683274.1:c.*180-1312_*180-1311insGCCC	ENSP00000507262.1:n.*180-1312_*180-1311insGCCC
ENST00000268261.9:c.*232_*233insGCCC MANE Select	ENSP00000268261.4:n.*232_*233insGCCC
ENST00000268261.8:c.*232_*233insGCCC	ENSP00000268261.4:n.*232_*233insGCCC
ENST00000562025.1:n.507_508insGCCC
ENST00000566540.5:c.*595_*596insGCCC	ENSP00000454284.1:n.*595_*596insGCCC
ENST00000566604.5:c.*513_*514insGCCC	ENSP00000456774.1:n.*513_*514insGCCC
ENST00000567697.1:n.4141_4142insGCCC
ENST00000570076.5:c.*431_*432insGCCC	ENSP00000456961.1:n.*431_*432insGCCC
NM_000303.2:c.*232_*233insGCCC	NP_000294.1:n.*232_*233insGCCC
XM_005255374.3:c.*232_*233insGCCC	XP_005255431.1:n.*232_*233insGCCC
XM_011522538.1:c.640-6977_640-6976insGCCC	XP_011520840.1:n.640-6977_640-6976insGCCC
XM_005255374.4:c.*232_*233insGCCC	XP_005255431.1:n.*232_*233insGCCC
NM_000303.3:c.*232_*233insGCCC MANE Select	NP_000294.1:n.*232_*233insGCCC