Canonical Allele Identifier: CA621171716

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847797_8847798insTTCA , CM000678.2:g.8847797_8847798insTTCA	GRCh38
NC_000016.9:g.8941654_8941655insTTCA , CM000678.1:g.8941654_8941655insTTCA	GRCh37
NC_000016.8:g.8849155_8849156insTTCA	NCBI36
NG_009209.1:g.54985_54986insTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3881_3882insTTCA
ENST00000682393.1:c.*258-1572_*258-1571insTTCA	ENSP00000506774.1:n.*258-1572_*258-1571insTTCA
ENST00000683094.1:c.*262-1572_*262-1571insTTCA	ENSP00000508230.1:n.*262-1572_*262-1571insTTCA
ENST00000683274.1:c.*180-1572_*180-1571insTTCA	ENSP00000507262.1:n.*180-1572_*180-1571insTTCA
ENST00000683435.1:c.*609_*610insTTCA	ENSP00000508092.1:n.*609_*610insTTCA
ENST00000268261.9:c.713_714insTTCA MANE Select	ENSP00000268261.4:p.Arg239SerfsTer5
ENST00000268261.8:c.713_714insTTCA	ENSP00000268261.4:p.Arg239SerfsTer5
ENST00000562025.1:n.247_248insTTCA
ENST00000562318.5:c.*435_*436insTTCA	ENSP00000454395.1:n.*435_*436insTTCA
ENST00000565221.5:c.*331_*332insTTCA	ENSP00000457932.1:n.*331_*332insTTCA
ENST00000566540.5:c.*335_*336insTTCA	ENSP00000454284.1:n.*335_*336insTTCA
ENST00000566604.5:c.*253_*254insTTCA	ENSP00000456774.1:n.*253_*254insTTCA
ENST00000566983.5:c.632_633insTTCA	ENSP00000457956.1:p.Arg212SerfsTer5
ENST00000567697.1:n.3881_3882insTTCA
ENST00000569958.5:c.440_441insTTCA	ENSP00000456302.1:p.Arg148SerfsTer5
ENST00000570076.5:c.*171_*172insTTCA	ENSP00000456961.1:n.*171_*172insTTCA
NM_000303.2:c.713_714insTTCA	NP_000294.1:p.Arg239SerfsTer5
XM_005255374.3:c.464_465insTTCA	XP_005255431.1:p.Arg156SerfsTer5
XM_011522538.1:c.640-7237_640-7236insTTCA	XP_011520840.1:n.640-7237_640-7236insTTCA
XM_005255374.4:c.464_465insTTCA	XP_005255431.1:p.Arg156SerfsTer5
NM_000303.3:c.713_714insTTCA MANE Select	NP_000294.1:p.Arg239SerfsTer5