Canonical Allele Identifier: CA2206158029
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847700_8847704delinsCATCT , CM000678.2:g.8847700_8847704delinsCATCT GRCh38
NC_000016.9:g.8941557_8941561delinsCATCT , CM000678.1:g.8941557_8941561delinsCATCT GRCh37
NC_000016.8:g.8849058_8849062delinsCATCT NCBI36
NG_009209.1:g.54888_54892delinsCATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-24_3808-20delinsCATCT
ENST00000682393.1:c.*258-1669_*258-1665delinsCATCT ENSP00000506774.1:n.*258-1669_*258-1665delinsCATCT
ENST00000683094.1:c.*262-1669_*262-1665delinsCATCT ENSP00000508230.1:n.*262-1669_*262-1665delinsCATCT
ENST00000683274.1:c.*180-1669_*180-1665delinsCATCT ENSP00000507262.1:n.*180-1669_*180-1665delinsCATCT
ENST00000683435.1:c.*536-24_*536-20delinsCATCT ENSP00000508092.1:n.*536-24_*536-20delinsCATCT
ENST00000268261.9:c.640-24_640-20delinsCATCT MANE Select ENSP00000268261.4:n.640-24_640-20delinsCATCT
ENST00000268261.8:c.640-24_640-20delinsCATCT ENSP00000268261.4:n.640-24_640-20delinsCATCT
ENST00000562025.1:n.174-24_174-20delinsCATCT
ENST00000562318.5:c.*362-24_*362-20delinsCATCT ENSP00000454395.1:n.*362-24_*362-20delinsCATCT
ENST00000565221.5:c.*258-24_*258-20delinsCATCT ENSP00000457932.1:n.*258-24_*258-20delinsCATCT
ENST00000566540.5:c.*262-24_*262-20delinsCATCT ENSP00000454284.1:n.*262-24_*262-20delinsCATCT
ENST00000566604.5:c.*180-24_*180-20delinsCATCT ENSP00000456774.1:n.*180-24_*180-20delinsCATCT
ENST00000566983.5:c.559-24_559-20delinsCATCT ENSP00000457956.1:n.559-24_559-20delinsCATCT
ENST00000567697.1:n.3808-24_3808-20delinsCATCT
ENST00000569958.5:c.367-24_367-20delinsCATCT ENSP00000456302.1:n.367-24_367-20delinsCATCT
ENST00000570076.5:c.*98-24_*98-20delinsCATCT ENSP00000456961.1:n.*98-24_*98-20delinsCATCT
NM_000303.2:c.640-24_640-20delinsCATCT NP_000294.1:n.640-24_640-20delinsCATCT
XM_005255374.3:c.391-24_391-20delinsCATCT XP_005255431.1:n.391-24_391-20delinsCATCT
XM_011522538.1:c.640-7334_640-7330delinsCATCT XP_011520840.1:n.640-7334_640-7330delinsCATCT
XM_005255374.4:c.391-24_391-20delinsCATCT XP_005255431.1:n.391-24_391-20delinsCATCT
NM_000303.3:c.640-24_640-20delinsCATCT MANE Select NP_000294.1:n.640-24_640-20delinsCATCT