Canonical Allele Identifier: CA912996719

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941675_8941678del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847818_8847821del , CM000678.2:g.8847818_8847821del	GRCh38
NC_000016.9:g.8941675_8941678del , CM000678.1:g.8941675_8941678del	GRCh37
NC_000016.8:g.8849176_8849179del	NCBI36
NG_009209.1:g.55006_55009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3902_3905del
ENST00000682393.1:c.*258-1551_*258-1548del	ENSP00000506774.1:n.*258-1551_*258-1548del
ENST00000683094.1:c.*262-1551_*262-1548del	ENSP00000508230.1:n.*262-1551_*262-1548del
ENST00000683274.1:c.*180-1551_*180-1548del	ENSP00000507262.1:n.*180-1551_*180-1548del
ENST00000683435.1:c.*630_*633del	ENSP00000508092.1:n.*630_*633del
ENST00000268261.9:c.734_737del MANE Select	ENSP00000268261.4:p.Phe245SerfsTer?
ENST00000268261.8:c.734_737del	ENSP00000268261.4:p.Phe245SerfsTer?
ENST00000562025.1:n.268_271del
ENST00000562318.5:c.*456_*459del	ENSP00000454395.1:n.*456_*459del
ENST00000565221.5:c.*352_*355del	ENSP00000457932.1:n.*352_*355del
ENST00000566540.5:c.*356_*359del	ENSP00000454284.1:n.*356_*359del
ENST00000566604.5:c.*274_*277del	ENSP00000456774.1:n.*274_*277del
ENST00000566983.5:c.653_656del	ENSP00000457956.1:p.Phe218SerfsTer?
ENST00000567697.1:n.3902_3905del
ENST00000569958.5:c.461_464del	ENSP00000456302.1:p.Phe154SerfsTer?
ENST00000570076.5:c.*192_*195del	ENSP00000456961.1:n.*192_*195del
NM_000303.2:c.734_737del	NP_000294.1:p.Phe245SerfsTer?
XM_005255374.3:c.485_488del	XP_005255431.1:p.Phe162SerfsTer?
XM_011522538.1:c.640-7216_640-7213del	XP_011520840.1:n.640-7216_640-7213del
XM_005255374.4:c.485_488del	XP_005255431.1:p.Phe162SerfsTer?
NM_000303.3:c.734_737del MANE Select	NP_000294.1:p.Phe245SerfsTer?