Canonical Allele Identifier: CA2206158015
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847680_8847682delinsGAC , CM000678.2:g.8847680_8847682delinsGAC GRCh38
NC_000016.9:g.8941537_8941539delinsGAC , CM000678.1:g.8941537_8941539delinsGAC GRCh37
NC_000016.8:g.8849038_8849040delinsGAC NCBI36
NG_009209.1:g.54868_54870delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-44_3808-42delinsGAC
ENST00000682393.1:c.*258-1689_*258-1687delinsGAC ENSP00000506774.1:n.*258-1689_*258-1687delinsGAC
ENST00000683094.1:c.*262-1689_*262-1687delinsGAC ENSP00000508230.1:n.*262-1689_*262-1687delinsGAC
ENST00000683274.1:c.*180-1689_*180-1687delinsGAC ENSP00000507262.1:n.*180-1689_*180-1687delinsGAC
ENST00000683435.1:c.*536-44_*536-42delinsGAC ENSP00000508092.1:n.*536-44_*536-42delinsGAC
ENST00000268261.9:c.640-44_640-42delinsGAC MANE Select ENSP00000268261.4:n.640-44_640-42delinsGAC
ENST00000268261.8:c.640-44_640-42delinsGAC ENSP00000268261.4:n.640-44_640-42delinsGAC
ENST00000562025.1:n.174-44_174-42delinsGAC
ENST00000562318.5:c.*362-44_*362-42delinsGAC ENSP00000454395.1:n.*362-44_*362-42delinsGAC
ENST00000565221.5:c.*258-44_*258-42delinsGAC ENSP00000457932.1:n.*258-44_*258-42delinsGAC
ENST00000566540.5:c.*262-44_*262-42delinsGAC ENSP00000454284.1:n.*262-44_*262-42delinsGAC
ENST00000566604.5:c.*180-44_*180-42delinsGAC ENSP00000456774.1:n.*180-44_*180-42delinsGAC
ENST00000566983.5:c.559-44_559-42delinsGAC ENSP00000457956.1:n.559-44_559-42delinsGAC
ENST00000567697.1:n.3808-44_3808-42delinsGAC
ENST00000569958.5:c.367-44_367-42delinsGAC ENSP00000456302.1:n.367-44_367-42delinsGAC
ENST00000570076.5:c.*98-44_*98-42delinsGAC ENSP00000456961.1:n.*98-44_*98-42delinsGAC
NM_000303.2:c.640-44_640-42delinsGAC NP_000294.1:n.640-44_640-42delinsGAC
XM_005255374.3:c.391-44_391-42delinsGAC XP_005255431.1:n.391-44_391-42delinsGAC
XM_011522538.1:c.640-7354_640-7352delinsGAC XP_011520840.1:n.640-7354_640-7352delinsGAC
XM_005255374.4:c.391-44_391-42delinsGAC XP_005255431.1:n.391-44_391-42delinsGAC
NM_000303.3:c.640-44_640-42delinsGAC MANE Select NP_000294.1:n.640-44_640-42delinsGAC