Canonical Allele Identifier: CA2638499158
Gene: PNPO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946523_47946524del , CM000679.2:g.47946523_47946524del GRCh38
NC_000017.10:g.46023889_46023890del , CM000679.1:g.46023889_46023890del GRCh37
NC_000017.9:g.43378888_43378889del NCBI36
NG_008744.1:g.10001_10002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.489-91_489-90del ENSP00000225573.5:n.489-91_489-90del
ENST00000434554.7:c.564-91_564-90del ENSP00000399960.3:n.564-91_564-90del
ENST00000582171.6:c.*283-91_*283-90del ENSP00000463994.1:n.*283-91_*283-90del
ENST00000583599.6:c.378-91_378-90del ENSP00000463919.2:n.378-91_378-90del
ENST00000584061.6:c.549-91_549-90del ENSP00000463972.2:n.549-91_549-90del
ENST00000584806.2:n.287-91_287-90del
ENST00000641285.1:n.398-91_398-90del
ENST00000641305.1:n.2117-91_2117-90del
ENST00000641323.1:c.*637-91_*637-90del ENSP00000492965.1:n.*637-91_*637-90del
ENST00000641427.1:n.618-91_618-90del
ENST00000641511.1:c.350-91_350-90del
ENST00000641703.1:c.334-91_334-90del ENSP00000493219.1:n.334-91_334-90del
ENST00000641709.1:c.*440-91_*440-90del ENSP00000493349.1:n.*440-91_*440-90del
ENST00000641856.1:c.*1126-91_*1126-90del ENSP00000493224.1:n.*1126-91_*1126-90del
ENST00000642017.2:c.618-91_618-90del MANE Select ENSP00000493302.2:n.618-91_618-90del
ENST00000225573.4:c.618-91_618-90del ENSP00000225573.4:n.618-91_618-90del
ENST00000434554.6:c.489-91_489-90del ENSP00000399960.2:n.489-91_489-90del
ENST00000582171.5:c.*283-91_*283-90del ENSP00000463994.1:n.*283-91_*283-90del
ENST00000584806.1:n.287-91_287-90del
ENST00000585320.5:c.*100-91_*100-90del ENSP00000462345.1:n.*100-91_*100-90del
NM_018129.3:c.618-91_618-90del NP_060599.1:n.618-91_618-90del
XM_005257500.2:c.378-91_378-90del XP_005257557.1:n.378-91_378-90del
XM_011524968.1:c.333-91_333-90del XP_011523270.1:n.333-91_333-90del
XM_005257500.3:c.378-91_378-90del XP_005257557.1:n.378-91_378-90del
XM_011524968.2:c.333-91_333-90del XP_011523270.1:n.333-91_333-90del
XM_017024813.1:c.378-91_378-90del XP_016880302.1:n.378-91_378-90del
NM_018129.4:c.618-91_618-90del MANE Select NP_060599.1:n.618-91_618-90del