Canonical Allele Identifier: CA2739266585

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2893666
• ClinVar RCV Id: RCV003619603

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811060_8811061del , CM000678.2:g.8811060_8811061del	GRCh38
NC_000016.9:g.8904917_8904918del , CM000678.1:g.8904917_8904918del	GRCh37
NC_000016.8:g.8812418_8812419del	NCBI36
NG_009209.1:g.18248_18249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3497_3498del
ENST00000682008.1:c.348-19_348-18del	ENSP00000507849.1:n.348-19_348-18del
ENST00000682393.1:c.179-19_179-18del	ENSP00000506774.1:n.179-19_179-18del
ENST00000683094.1:c.*70-578_*70-577del	ENSP00000508230.1:n.*70-578_*70-577del
ENST00000683274.1:c.348-578_348-577del	ENSP00000507262.1:n.348-578_348-577del
ENST00000683435.1:c.*344-578_*344-577del	ENSP00000508092.1:n.*344-578_*344-577del
ENST00000268261.9:c.348-19_348-18del MANE Select	ENSP00000268261.4:n.348-19_348-18del
ENST00000268261.8:c.348-19_348-18del	ENSP00000268261.4:n.348-19_348-18del
ENST00000562318.5:c.*70-19_*70-18del	ENSP00000454395.1:n.*70-19_*70-18del
ENST00000564069.1:c.319-19_319-18del
ENST00000565221.5:c.179-19_179-18del	ENSP00000457932.1:n.179-19_179-18del
ENST00000565896.5:c.*146-19_*146-18del	ENSP00000456024.1:n.*146-19_*146-18del
ENST00000566540.5:c.*70-578_*70-577del	ENSP00000454284.1:n.*70-578_*70-577del
ENST00000566604.5:c.348-578_348-577del	ENSP00000456774.1:n.348-578_348-577del
ENST00000566983.5:c.267-19_267-18del	ENSP00000457956.1:n.267-19_267-18del
ENST00000567697.1:n.3497_3498del
ENST00000568602.5:c.*201-19_*201-18del	ENSP00000455066.1:n.*201-19_*201-18del
ENST00000569958.5:c.179-582_179-581del	ENSP00000456302.1:n.179-582_179-581del
ENST00000570076.5:c.179-578_179-577del	ENSP00000456961.1:n.179-578_179-577del
ENST00000570134.5:c.*70-578_*70-577del	ENSP00000456275.1:n.*70-578_*70-577del
NM_000303.2:c.348-19_348-18del	NP_000294.1:n.348-19_348-18del
XM_005255372.3:c.348-19_348-18del	XP_005255429.1:n.348-19_348-18del
XM_005255373.3:c.99-19_99-18del	XP_005255430.1:n.99-19_99-18del
XM_005255374.3:c.99-19_99-18del	XP_005255431.1:n.99-19_99-18del
XM_011522538.1:c.348-19_348-18del	XP_011520840.1:n.348-19_348-18del
XM_011522539.1:c.-28-19_-28-18del	XP_011520841.1:n.-28-19_-28-18del
XM_005255374.4:c.99-19_99-18del	XP_005255431.1:n.99-19_99-18del
NM_000303.3:c.348-19_348-18del MANE Select	NP_000294.1:n.348-19_348-18del