Canonical Allele Identifier: CA2631643766

Gene: PMM2

Linked Data

• gnomAD v4: 16-8811024-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811024_8811025insG , CM000678.2:g.8811024_8811025insG	GRCh38
NC_000016.9:g.8904881_8904882insG , CM000678.1:g.8904881_8904882insG	GRCh37
NC_000016.8:g.8812382_8812383insG	NCBI36
NG_009209.1:g.18212_18213insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3461_3462insG
ENST00000682008.1:c.348-55_348-54insG	ENSP00000507849.1:n.348-55_348-54insG
ENST00000682393.1:c.179-55_179-54insG	ENSP00000506774.1:n.179-55_179-54insG
ENST00000683094.1:c.*70-614_*70-613insG	ENSP00000508230.1:n.*70-614_*70-613insG
ENST00000683274.1:c.348-614_348-613insG	ENSP00000507262.1:n.348-614_348-613insG
ENST00000683435.1:c.*344-614_*344-613insG	ENSP00000508092.1:n.*344-614_*344-613insG
ENST00000268261.9:c.348-55_348-54insG MANE Select	ENSP00000268261.4:n.348-55_348-54insG
ENST00000268261.8:c.348-55_348-54insG	ENSP00000268261.4:n.348-55_348-54insG
ENST00000562318.5:c.*70-55_*70-54insG	ENSP00000454395.1:n.*70-55_*70-54insG
ENST00000564069.1:c.319-55_319-54insG
ENST00000565221.5:c.179-55_179-54insG	ENSP00000457932.1:n.179-55_179-54insG
ENST00000565896.5:c.*146-55_*146-54insG	ENSP00000456024.1:n.*146-55_*146-54insG
ENST00000566540.5:c.*70-614_*70-613insG	ENSP00000454284.1:n.*70-614_*70-613insG
ENST00000566604.5:c.348-614_348-613insG	ENSP00000456774.1:n.348-614_348-613insG
ENST00000566983.5:c.267-55_267-54insG	ENSP00000457956.1:n.267-55_267-54insG
ENST00000567697.1:n.3461_3462insG
ENST00000568602.5:c.*201-55_*201-54insG	ENSP00000455066.1:n.*201-55_*201-54insG
ENST00000569958.5:c.179-618_179-617insG	ENSP00000456302.1:n.179-618_179-617insG
ENST00000570076.5:c.179-614_179-613insG	ENSP00000456961.1:n.179-614_179-613insG
ENST00000570134.5:c.*70-614_*70-613insG	ENSP00000456275.1:n.*70-614_*70-613insG
NM_000303.2:c.348-55_348-54insG	NP_000294.1:n.348-55_348-54insG
XM_005255372.3:c.348-55_348-54insG	XP_005255429.1:n.348-55_348-54insG
XM_005255373.3:c.99-55_99-54insG	XP_005255430.1:n.99-55_99-54insG
XM_005255374.3:c.99-55_99-54insG	XP_005255431.1:n.99-55_99-54insG
XM_011522538.1:c.348-55_348-54insG	XP_011520840.1:n.348-55_348-54insG
XM_011522539.1:c.-28-55_-28-54insG	XP_011520841.1:n.-28-55_-28-54insG
XM_005255374.4:c.99-55_99-54insG	XP_005255431.1:n.99-55_99-54insG
NM_000303.3:c.348-55_348-54insG MANE Select	NP_000294.1:n.348-55_348-54insG