Canonical Allele Identifier: CA621171709

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847796_8847797insT , CM000678.2:g.8847796_8847797insT	GRCh38
NC_000016.9:g.8941653_8941654insT , CM000678.1:g.8941653_8941654insT	GRCh37
NC_000016.8:g.8849154_8849155insT	NCBI36
NG_009209.1:g.54984_54985insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3880_3881insT
ENST00000682393.1:c.*258-1573_*258-1572insT	ENSP00000506774.1:n.*258-1573_*258-1572insT
ENST00000683094.1:c.*262-1573_*262-1572insT	ENSP00000508230.1:n.*262-1573_*262-1572insT
ENST00000683274.1:c.*180-1573_*180-1572insT	ENSP00000507262.1:n.*180-1573_*180-1572insT
ENST00000683435.1:c.*608_*609insT	ENSP00000508092.1:n.*608_*609insT
ENST00000268261.9:c.712_713insT MANE Select	ENSP00000268261.4:p.Arg238LeufsTer5
ENST00000268261.8:c.712_713insT	ENSP00000268261.4:p.Arg238LeufsTer5
ENST00000562025.1:n.246_247insT
ENST00000562318.5:c.*434_*435insT	ENSP00000454395.1:n.*434_*435insT
ENST00000565221.5:c.*330_*331insT	ENSP00000457932.1:n.*330_*331insT
ENST00000566540.5:c.*334_*335insT	ENSP00000454284.1:n.*334_*335insT
ENST00000566604.5:c.*252_*253insT	ENSP00000456774.1:n.*252_*253insT
ENST00000566983.5:c.631_632insT	ENSP00000457956.1:p.Arg211LeufsTer5
ENST00000567697.1:n.3880_3881insT
ENST00000569958.5:c.439_440insT	ENSP00000456302.1:p.Arg147LeufsTer5
ENST00000570076.5:c.*170_*171insT	ENSP00000456961.1:n.*170_*171insT
NM_000303.2:c.712_713insT	NP_000294.1:p.Arg238LeufsTer5
XM_005255374.3:c.463_464insT	XP_005255431.1:p.Arg155LeufsTer5
XM_011522538.1:c.640-7238_640-7237insT	XP_011520840.1:n.640-7238_640-7237insT
XM_005255374.4:c.463_464insT	XP_005255431.1:p.Arg155LeufsTer5
NM_000303.3:c.712_713insT MANE Select	NP_000294.1:p.Arg238LeufsTer5