Canonical Allele Identifier: CA2206157969
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847608_8847610delinsACT , CM000678.2:g.8847608_8847610delinsACT GRCh38
NC_000016.9:g.8941465_8941467delinsACT , CM000678.1:g.8941465_8941467delinsACT GRCh37
NC_000016.8:g.8848966_8848968delinsACT NCBI36
NG_009209.1:g.54796_54798delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-116_3808-114delinsACT
ENST00000682393.1:c.*258-1761_*258-1759delinsACT ENSP00000506774.1:n.*258-1761_*258-1759delinsACT
ENST00000683094.1:c.*262-1761_*262-1759delinsACT ENSP00000508230.1:n.*262-1761_*262-1759delinsACT
ENST00000683274.1:c.*180-1761_*180-1759delinsACT ENSP00000507262.1:n.*180-1761_*180-1759delinsACT
ENST00000683435.1:c.*536-116_*536-114delinsACT ENSP00000508092.1:n.*536-116_*536-114delinsACT
ENST00000268261.9:c.640-116_640-114delinsACT MANE Select ENSP00000268261.4:n.640-116_640-114delinsACT
ENST00000268261.8:c.640-116_640-114delinsACT ENSP00000268261.4:n.640-116_640-114delinsACT
ENST00000562025.1:n.174-116_174-114delinsACT
ENST00000562318.5:c.*362-116_*362-114delinsACT ENSP00000454395.1:n.*362-116_*362-114delinsACT
ENST00000565221.5:c.*258-116_*258-114delinsACT ENSP00000457932.1:n.*258-116_*258-114delinsACT
ENST00000566540.5:c.*262-116_*262-114delinsACT ENSP00000454284.1:n.*262-116_*262-114delinsACT
ENST00000566604.5:c.*180-116_*180-114delinsACT ENSP00000456774.1:n.*180-116_*180-114delinsACT
ENST00000566983.5:c.559-116_559-114delinsACT ENSP00000457956.1:n.559-116_559-114delinsACT
ENST00000567697.1:n.3808-116_3808-114delinsACT
ENST00000569958.5:c.367-116_367-114delinsACT ENSP00000456302.1:n.367-116_367-114delinsACT
ENST00000570076.5:c.*98-116_*98-114delinsACT ENSP00000456961.1:n.*98-116_*98-114delinsACT
NM_000303.2:c.640-116_640-114delinsACT NP_000294.1:n.640-116_640-114delinsACT
XM_005255374.3:c.391-116_391-114delinsACT XP_005255431.1:n.391-116_391-114delinsACT
XM_011522538.1:c.640-7426_640-7424delinsACT XP_011520840.1:n.640-7426_640-7424delinsACT
XM_005255374.4:c.391-116_391-114delinsACT XP_005255431.1:n.391-116_391-114delinsACT
NM_000303.3:c.640-116_640-114delinsACT MANE Select NP_000294.1:n.640-116_640-114delinsACT