Canonical Allele Identifier: CA277491104

Gene: PMM2

Linked Data

• dbSNP Id: rs72530705
• MyVariant Identifiers: chr16:g.8904879_8904880insATG (hg19) ; chr16:g.8811022_8811023insATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811022_8811023insATG , CM000678.2:g.8811022_8811023insATG	GRCh38
NC_000016.9:g.8904879_8904880insATG , CM000678.1:g.8904879_8904880insATG	GRCh37
NC_000016.8:g.8812380_8812381insATG	NCBI36
NG_009209.1:g.18210_18211insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3459_3460insATG
ENST00000682008.1:c.348-57_348-56insATG	ENSP00000507849.1:n.348-57_348-56insATG
ENST00000682393.1:c.179-57_179-56insATG	ENSP00000506774.1:n.179-57_179-56insATG
ENST00000683094.1:c.*70-616_*70-615insATG	ENSP00000508230.1:n.*70-616_*70-615insATG
ENST00000683274.1:c.348-616_348-615insATG	ENSP00000507262.1:n.348-616_348-615insATG
ENST00000683435.1:c.*344-616_*344-615insATG	ENSP00000508092.1:n.*344-616_*344-615insATG
ENST00000268261.9:c.348-57_348-56insATG MANE Select	ENSP00000268261.4:n.348-57_348-56insATG
ENST00000268261.8:c.348-57_348-56insATG	ENSP00000268261.4:n.348-57_348-56insATG
ENST00000562318.5:c.*70-57_*70-56insATG	ENSP00000454395.1:n.*70-57_*70-56insATG
ENST00000564069.1:c.319-57_319-56insATG
ENST00000565221.5:c.179-57_179-56insATG	ENSP00000457932.1:n.179-57_179-56insATG
ENST00000565896.5:c.*146-57_*146-56insATG	ENSP00000456024.1:n.*146-57_*146-56insATG
ENST00000566540.5:c.*70-616_*70-615insATG	ENSP00000454284.1:n.*70-616_*70-615insATG
ENST00000566604.5:c.348-616_348-615insATG	ENSP00000456774.1:n.348-616_348-615insATG
ENST00000566983.5:c.267-57_267-56insATG	ENSP00000457956.1:n.267-57_267-56insATG
ENST00000567697.1:n.3459_3460insATG
ENST00000568602.5:c.*201-57_*201-56insATG	ENSP00000455066.1:n.*201-57_*201-56insATG
ENST00000569958.5:c.179-620_179-619insATG	ENSP00000456302.1:n.179-620_179-619insATG
ENST00000570076.5:c.179-616_179-615insATG	ENSP00000456961.1:n.179-616_179-615insATG
ENST00000570134.5:c.*70-616_*70-615insATG	ENSP00000456275.1:n.*70-616_*70-615insATG
NM_000303.2:c.348-57_348-56insATG	NP_000294.1:n.348-57_348-56insATG
XM_005255372.3:c.348-57_348-56insATG	XP_005255429.1:n.348-57_348-56insATG
XM_005255373.3:c.99-57_99-56insATG	XP_005255430.1:n.99-57_99-56insATG
XM_005255374.3:c.99-57_99-56insATG	XP_005255431.1:n.99-57_99-56insATG
XM_011522538.1:c.348-57_348-56insATG	XP_011520840.1:n.348-57_348-56insATG
XM_011522539.1:c.-28-57_-28-56insATG	XP_011520841.1:n.-28-57_-28-56insATG
XM_005255374.4:c.99-57_99-56insATG	XP_005255431.1:n.99-57_99-56insATG
NM_000303.3:c.348-57_348-56insATG MANE Select	NP_000294.1:n.348-57_348-56insATG