Canonical Allele Identifier: CA974429339

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848061-CA-C
• gnomAD v4: 16-8848061-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848062del , CM000678.2:g.8848062del	GRCh38
NC_000016.9:g.8941919del , CM000678.1:g.8941919del	GRCh37
NC_000016.8:g.8849420del	NCBI36
NG_009209.1:g.55250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4146del
ENST00000682393.1:c.*258-1307del	ENSP00000506774.1:n.*258-1307del
ENST00000683094.1:c.*262-1307del	ENSP00000508230.1:n.*262-1307del
ENST00000683274.1:c.*180-1307del	ENSP00000507262.1:n.*180-1307del
ENST00000268261.9:c.*237del MANE Select	ENSP00000268261.4:n.*237del
ENST00000268261.8:c.*237del	ENSP00000268261.4:n.*237del
ENST00000562025.1:n.512del
ENST00000566540.5:c.*600del	ENSP00000454284.1:n.*600del
ENST00000566604.5:c.*518del	ENSP00000456774.1:n.*518del
ENST00000567697.1:n.4146del
ENST00000570076.5:c.*436del	ENSP00000456961.1:n.*436del
NM_000303.2:c.*237del	NP_000294.1:n.*237del
XM_005255374.3:c.*237del	XP_005255431.1:n.*237del
XM_011522538.1:c.640-6972del	XP_011520840.1:n.640-6972del
XM_005255374.4:c.*237del	XP_005255431.1:n.*237del
NM_000303.3:c.*237del MANE Select	NP_000294.1:n.*237del