Canonical Allele Identifier: CA974429393

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848073-G-GCCCCCC
• gnomAD v4: 16-8848073-G-GCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848078_8848079insCCCCCC , CM000678.2:g.8848078_8848079insCCCCCC	GRCh38
NC_000016.9:g.8941935_8941936insCCCCCC , CM000678.1:g.8941935_8941936insCCCCCC	GRCh37
NC_000016.8:g.8849436_8849437insCCCCCC	NCBI36
NG_009209.1:g.55266_55267insCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4162_4163insCCCCCC
ENST00000682393.1:c.*258-1291_*258-1290insCCCCCC	ENSP00000506774.1:n.*258-1291_*258-1290insCCCCCC
ENST00000683094.1:c.*262-1291_*262-1290insCCCCCC	ENSP00000508230.1:n.*262-1291_*262-1290insCCCCCC
ENST00000683274.1:c.*180-1291_*180-1290insCCCCCC	ENSP00000507262.1:n.*180-1291_*180-1290insCCCCCC
ENST00000268261.9:c.*253_*254insCCCCCC MANE Select	ENSP00000268261.4:n.*253_*254insCCCCCC
ENST00000268261.8:c.*253_*254insCCCCCC	ENSP00000268261.4:n.*253_*254insCCCCCC
ENST00000562025.1:n.528_529insCCCCCC
ENST00000566540.5:c.*616_*617insCCCCCC	ENSP00000454284.1:n.*616_*617insCCCCCC
ENST00000566604.5:c.*534_*535insCCCCCC	ENSP00000456774.1:n.*534_*535insCCCCCC
ENST00000567697.1:n.4162_4163insCCCCCC
ENST00000570076.5:c.*452_*453insCCCCCC	ENSP00000456961.1:n.*452_*453insCCCCCC
NM_000303.2:c.*253_*254insCCCCCC	NP_000294.1:n.*253_*254insCCCCCC
XM_005255374.3:c.*253_*254insCCCCCC	XP_005255431.1:n.*253_*254insCCCCCC
XM_011522538.1:c.640-6956_640-6955insCCCCCC	XP_011520840.1:n.640-6956_640-6955insCCCCCC
XM_005255374.4:c.*253_*254insCCCCCC	XP_005255431.1:n.*253_*254insCCCCCC
NM_000303.3:c.*253_*254insCCCCCC MANE Select	NP_000294.1:n.*253_*254insCCCCCC