Canonical Allele Identifier: CA626406322
Gene: PNPO HGNC NCBI

Linked Data

dbSNP Id: rs1268433281

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946582_47946583del , CM000679.2:g.47946582_47946583del GRCh38
NC_000017.10:g.46023948_46023949del , CM000679.1:g.46023948_46023949del GRCh37
NC_000017.9:g.43378947_43378948del NCBI36
NG_008744.1:g.10060_10061del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.489-32_489-31del ENSP00000225573.5:n.489-32_489-31del
ENST00000434554.7:c.564-32_564-31del ENSP00000399960.3:n.564-32_564-31del
ENST00000582171.6:c.*283-32_*283-31del ENSP00000463994.1:n.*283-32_*283-31del
ENST00000583599.6:c.378-32_378-31del ENSP00000463919.2:n.378-32_378-31del
ENST00000584061.6:c.549-32_549-31del ENSP00000463972.2:n.549-32_549-31del
ENST00000584806.2:n.287-32_287-31del
ENST00000641285.1:n.398-32_398-31del
ENST00000641305.1:n.2117-32_2117-31del
ENST00000641323.1:c.*637-32_*637-31del ENSP00000492965.1:n.*637-32_*637-31del
ENST00000641427.1:n.618-32_618-31del
ENST00000641511.1:c.350-32_350-31del
ENST00000641703.1:c.334-32_334-31del ENSP00000493219.1:n.334-32_334-31del
ENST00000641709.1:c.*440-32_*440-31del ENSP00000493349.1:n.*440-32_*440-31del
ENST00000641856.1:c.*1126-32_*1126-31del ENSP00000493224.1:n.*1126-32_*1126-31del
ENST00000642017.2:c.618-32_618-31del MANE Select ENSP00000493302.2:n.618-32_618-31del
ENST00000225573.4:c.618-32_618-31del ENSP00000225573.4:n.618-32_618-31del
ENST00000434554.6:c.489-32_489-31del ENSP00000399960.2:n.489-32_489-31del
ENST00000582171.5:c.*283-32_*283-31del ENSP00000463994.1:n.*283-32_*283-31del
ENST00000584806.1:n.287-32_287-31del
ENST00000585320.5:c.*100-32_*100-31del ENSP00000462345.1:n.*100-32_*100-31del
NM_018129.3:c.618-32_618-31del NP_060599.1:n.618-32_618-31del
XM_005257500.2:c.378-32_378-31del XP_005257557.1:n.378-32_378-31del
XM_011524968.1:c.333-32_333-31del XP_011523270.1:n.333-32_333-31del
XM_005257500.3:c.378-32_378-31del XP_005257557.1:n.378-32_378-31del
XM_011524968.2:c.333-32_333-31del XP_011523270.1:n.333-32_333-31del
XM_017024813.1:c.378-32_378-31del XP_016880302.1:n.378-32_378-31del
NM_018129.4:c.618-32_618-31del MANE Select NP_060599.1:n.618-32_618-31del