Canonical Allele Identifier: CA2631646234

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848066-ACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848069_8848071del , CM000678.2:g.8848069_8848071del	GRCh38
NC_000016.9:g.8941926_8941928del , CM000678.1:g.8941926_8941928del	GRCh37
NC_000016.8:g.8849427_8849429del	NCBI36
NG_009209.1:g.55257_55259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4153_4155del
ENST00000682393.1:c.*258-1300_*258-1298del	ENSP00000506774.1:n.*258-1300_*258-1298del
ENST00000683094.1:c.*262-1300_*262-1298del	ENSP00000508230.1:n.*262-1300_*262-1298del
ENST00000683274.1:c.*180-1300_*180-1298del	ENSP00000507262.1:n.*180-1300_*180-1298del
ENST00000268261.9:c.*244_*246del MANE Select	ENSP00000268261.4:n.*244_*246del
ENST00000268261.8:c.*244_*246del	ENSP00000268261.4:n.*244_*246del
ENST00000562025.1:n.519_521del
ENST00000566540.5:c.*607_*609del	ENSP00000454284.1:n.*607_*609del
ENST00000566604.5:c.*525_*527del	ENSP00000456774.1:n.*525_*527del
ENST00000567697.1:n.4153_4155del
ENST00000570076.5:c.*443_*445del	ENSP00000456961.1:n.*443_*445del
NM_000303.2:c.*244_*246del	NP_000294.1:n.*244_*246del
XM_005255374.3:c.*244_*246del	XP_005255431.1:n.*244_*246del
XM_011522538.1:c.640-6965_640-6963del	XP_011520840.1:n.640-6965_640-6963del
XM_005255374.4:c.*244_*246del	XP_005255431.1:n.*244_*246del
NM_000303.3:c.*244_*246del MANE Select	NP_000294.1:n.*244_*246del