Canonical Allele Identifier: CA2631646222

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848057-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848061del , CM000678.2:g.8848061del	GRCh38
NC_000016.9:g.8941918del , CM000678.1:g.8941918del	GRCh37
NC_000016.8:g.8849419del	NCBI36
NG_009209.1:g.55249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4145del
ENST00000682393.1:c.*258-1308del	ENSP00000506774.1:n.*258-1308del
ENST00000683094.1:c.*262-1308del	ENSP00000508230.1:n.*262-1308del
ENST00000683274.1:c.*180-1308del	ENSP00000507262.1:n.*180-1308del
ENST00000268261.9:c.*236del MANE Select	ENSP00000268261.4:n.*236del
ENST00000268261.8:c.*236del	ENSP00000268261.4:n.*236del
ENST00000562025.1:n.511del
ENST00000566540.5:c.*599del	ENSP00000454284.1:n.*599del
ENST00000566604.5:c.*517del	ENSP00000456774.1:n.*517del
ENST00000567697.1:n.4145del
ENST00000570076.5:c.*435del	ENSP00000456961.1:n.*435del
NM_000303.2:c.*236del	NP_000294.1:n.*236del
XM_005255374.3:c.*236del	XP_005255431.1:n.*236del
XM_011522538.1:c.640-6973del	XP_011520840.1:n.640-6973del
XM_005255374.4:c.*236del	XP_005255431.1:n.*236del
NM_000303.3:c.*236del MANE Select	NP_000294.1:n.*236del