Canonical Allele Identifier: CA620730274

Gene: PMM2

Linked Data

• dbSNP Id: rs34742119
• gnomAD v2: 16-8904877-T-TG
• gnomAD v3: 16-8811020-T-TG
• gnomAD v4: 16-8811020-T-TG
• MyVariant Identifiers: chr16:g.8904877_8904878insG (hg19) ; chr16:g.8811020_8811021insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811020_8811021insG , CM000678.2:g.8811020_8811021insG	GRCh38
NC_000016.9:g.8904877_8904878insG , CM000678.1:g.8904877_8904878insG	GRCh37
NC_000016.8:g.8812378_8812379insG	NCBI36
NG_009209.1:g.18208_18209insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3457_3458insG
ENST00000682008.1:c.348-59_348-58insG	ENSP00000507849.1:n.348-59_348-58insG
ENST00000682393.1:c.179-59_179-58insG	ENSP00000506774.1:n.179-59_179-58insG
ENST00000683094.1:c.*70-618_*70-617insG	ENSP00000508230.1:n.*70-618_*70-617insG
ENST00000683274.1:c.348-618_348-617insG	ENSP00000507262.1:n.348-618_348-617insG
ENST00000683435.1:c.*344-618_*344-617insG	ENSP00000508092.1:n.*344-618_*344-617insG
ENST00000268261.9:c.348-59_348-58insG MANE Select	ENSP00000268261.4:n.348-59_348-58insG
ENST00000268261.8:c.348-59_348-58insG	ENSP00000268261.4:n.348-59_348-58insG
ENST00000562318.5:c.*70-59_*70-58insG	ENSP00000454395.1:n.*70-59_*70-58insG
ENST00000564069.1:c.319-59_319-58insG
ENST00000565221.5:c.179-59_179-58insG	ENSP00000457932.1:n.179-59_179-58insG
ENST00000565896.5:c.*146-59_*146-58insG	ENSP00000456024.1:n.*146-59_*146-58insG
ENST00000566540.5:c.*70-618_*70-617insG	ENSP00000454284.1:n.*70-618_*70-617insG
ENST00000566604.5:c.348-618_348-617insG	ENSP00000456774.1:n.348-618_348-617insG
ENST00000566983.5:c.267-59_267-58insG	ENSP00000457956.1:n.267-59_267-58insG
ENST00000567697.1:n.3457_3458insG
ENST00000568602.5:c.*201-59_*201-58insG	ENSP00000455066.1:n.*201-59_*201-58insG
ENST00000569958.5:c.179-622_179-621insG	ENSP00000456302.1:n.179-622_179-621insG
ENST00000570076.5:c.179-618_179-617insG	ENSP00000456961.1:n.179-618_179-617insG
ENST00000570134.5:c.*70-618_*70-617insG	ENSP00000456275.1:n.*70-618_*70-617insG
NM_000303.2:c.348-59_348-58insG	NP_000294.1:n.348-59_348-58insG
XM_005255372.3:c.348-59_348-58insG	XP_005255429.1:n.348-59_348-58insG
XM_005255373.3:c.99-59_99-58insG	XP_005255430.1:n.99-59_99-58insG
XM_005255374.3:c.99-59_99-58insG	XP_005255431.1:n.99-59_99-58insG
XM_011522538.1:c.348-59_348-58insG	XP_011520840.1:n.348-59_348-58insG
XM_011522539.1:c.-28-59_-28-58insG	XP_011520841.1:n.-28-59_-28-58insG
XM_005255374.4:c.99-59_99-58insG	XP_005255431.1:n.99-59_99-58insG
NM_000303.3:c.348-59_348-58insG MANE Select	NP_000294.1:n.348-59_348-58insG