Canonical Allele Identifier: CA658798539

Gene: PMM2

Linked Data

• ClinVar Variation Id: 503676
• ClinVar RCV Id: RCV000599337 ; RCV000670380
• dbSNP Id: rs1555449314
• gnomAD v4: 16-8806383-CG-C
• MyVariant Identifiers: chr16:g.8900241del (hg19) ; chr16:g.8806384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806384del , CM000678.2:g.8806384del	GRCh38
NC_000016.9:g.8900241del , CM000678.1:g.8900241del	GRCh37
NC_000016.8:g.8807742del	NCBI36
NG_009209.1:g.13572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.324del	ENSP00000507849.1:p.Ile110LeufsTer18
ENST00000682393.1:c.178+4474del	ENSP00000506774.1:n.178+4474del
ENST00000683094.1:c.*46del	ENSP00000508230.1:n.*46del
ENST00000683274.1:c.324del	ENSP00000507262.1:p.Ile110LeufsTer?
ENST00000683435.1:c.*320del	ENSP00000508092.1:n.*320del
ENST00000268261.9:c.324del MANE Select	ENSP00000268261.4:p.Ile110LeufsTer18
ENST00000268261.8:c.324del	ENSP00000268261.4:p.Ile110LeufsTer18
ENST00000562318.5:c.*46del	ENSP00000454395.1:n.*46del
ENST00000562448.1:n.288del
ENST00000564030.5:n.386del
ENST00000564069.1:c.295del
ENST00000565221.5:c.178+4474del	ENSP00000457932.1:n.178+4474del
ENST00000565896.5:c.*145+3995del	ENSP00000456024.1:n.*145+3995del
ENST00000566540.5:c.*46del	ENSP00000454284.1:n.*46del
ENST00000566604.5:c.324del	ENSP00000456774.1:p.Ile110LeufsTer?
ENST00000566983.5:c.243del	ENSP00000457956.1:p.Ile83LeufsTer18
ENST00000568602.5:c.*177del	ENSP00000455066.1:n.*177del
ENST00000569958.5:c.178+4474del	ENSP00000456302.1:n.178+4474del
ENST00000570076.5:c.178+4474del	ENSP00000456961.1:n.178+4474del
ENST00000570134.5:c.*46del	ENSP00000456275.1:n.*46del
NM_000303.2:c.324del	NP_000294.1:p.Ile110LeufsTer18
XM_005255372.3:c.324del	XP_005255429.1:p.Ile110LeufsTer18
XM_005255373.3:c.75del	XP_005255430.1:p.Ile27LeufsTer18
XM_005255374.3:c.75del	XP_005255431.1:p.Ile27LeufsTer18
XM_011522538.1:c.324del	XP_011520840.1:p.Ile110LeufsTer18
XM_011522539.1:c.-29+4474del	XP_011520841.1:n.-29+4474del
XM_005255374.4:c.75del	XP_005255431.1:p.Ile27LeufsTer18
NM_000303.3:c.324del MANE Select	NP_000294.1:p.Ile110LeufsTer18