Canonical Allele Identifier: CA2206158009
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847674_8847675delinsGC , CM000678.2:g.8847674_8847675delinsGC GRCh38
NC_000016.9:g.8941531_8941532delinsGC , CM000678.1:g.8941531_8941532delinsGC GRCh37
NC_000016.8:g.8849032_8849033delinsGC NCBI36
NG_009209.1:g.54862_54863delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-50_3808-49delinsGC
ENST00000682393.1:c.*258-1695_*258-1694delinsGC ENSP00000506774.1:n.*258-1695_*258-1694delinsGC
ENST00000683094.1:c.*262-1695_*262-1694delinsGC ENSP00000508230.1:n.*262-1695_*262-1694delinsGC
ENST00000683274.1:c.*180-1695_*180-1694delinsGC ENSP00000507262.1:n.*180-1695_*180-1694delinsGC
ENST00000683435.1:c.*536-50_*536-49delinsGC ENSP00000508092.1:n.*536-50_*536-49delinsGC
ENST00000268261.9:c.640-50_640-49delinsGC MANE Select ENSP00000268261.4:n.640-50_640-49delinsGC
ENST00000268261.8:c.640-50_640-49delinsGC ENSP00000268261.4:n.640-50_640-49delinsGC
ENST00000562025.1:n.174-50_174-49delinsGC
ENST00000562318.5:c.*362-50_*362-49delinsGC ENSP00000454395.1:n.*362-50_*362-49delinsGC
ENST00000565221.5:c.*258-50_*258-49delinsGC ENSP00000457932.1:n.*258-50_*258-49delinsGC
ENST00000566540.5:c.*262-50_*262-49delinsGC ENSP00000454284.1:n.*262-50_*262-49delinsGC
ENST00000566604.5:c.*180-50_*180-49delinsGC ENSP00000456774.1:n.*180-50_*180-49delinsGC
ENST00000566983.5:c.559-50_559-49delinsGC ENSP00000457956.1:n.559-50_559-49delinsGC
ENST00000567697.1:n.3808-50_3808-49delinsGC
ENST00000569958.5:c.367-50_367-49delinsGC ENSP00000456302.1:n.367-50_367-49delinsGC
ENST00000570076.5:c.*98-50_*98-49delinsGC ENSP00000456961.1:n.*98-50_*98-49delinsGC
NM_000303.2:c.640-50_640-49delinsGC NP_000294.1:n.640-50_640-49delinsGC
XM_005255374.3:c.391-50_391-49delinsGC XP_005255431.1:n.391-50_391-49delinsGC
XM_011522538.1:c.640-7360_640-7359delinsGC XP_011520840.1:n.640-7360_640-7359delinsGC
XM_005255374.4:c.391-50_391-49delinsGC XP_005255431.1:n.391-50_391-49delinsGC
NM_000303.3:c.640-50_640-49delinsGC MANE Select NP_000294.1:n.640-50_640-49delinsGC