Canonical Allele Identifier: CA2638499185
Gene: PNPO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946546_47946552del , CM000679.2:g.47946546_47946552del GRCh38
NC_000017.10:g.46023912_46023918del , CM000679.1:g.46023912_46023918del GRCh37
NC_000017.9:g.43378911_43378917del NCBI36
NG_008744.1:g.10024_10030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.489-68_489-62del ENSP00000225573.5:n.489-68_489-62del
ENST00000434554.7:c.564-68_564-62del ENSP00000399960.3:n.564-68_564-62del
ENST00000582171.6:c.*283-68_*283-62del ENSP00000463994.1:n.*283-68_*283-62del
ENST00000583599.6:c.378-68_378-62del ENSP00000463919.2:n.378-68_378-62del
ENST00000584061.6:c.549-68_549-62del ENSP00000463972.2:n.549-68_549-62del
ENST00000584806.2:n.287-68_287-62del
ENST00000641285.1:n.398-68_398-62del
ENST00000641305.1:n.2117-68_2117-62del
ENST00000641323.1:c.*637-68_*637-62del ENSP00000492965.1:n.*637-68_*637-62del
ENST00000641427.1:n.618-68_618-62del
ENST00000641511.1:c.350-68_350-62del
ENST00000641703.1:c.334-68_334-62del ENSP00000493219.1:n.334-68_334-62del
ENST00000641709.1:c.*440-68_*440-62del ENSP00000493349.1:n.*440-68_*440-62del
ENST00000641856.1:c.*1126-68_*1126-62del ENSP00000493224.1:n.*1126-68_*1126-62del
ENST00000642017.2:c.618-68_618-62del MANE Select ENSP00000493302.2:n.618-68_618-62del
ENST00000225573.4:c.618-68_618-62del ENSP00000225573.4:n.618-68_618-62del
ENST00000434554.6:c.489-68_489-62del ENSP00000399960.2:n.489-68_489-62del
ENST00000582171.5:c.*283-68_*283-62del ENSP00000463994.1:n.*283-68_*283-62del
ENST00000584806.1:n.287-68_287-62del
ENST00000585320.5:c.*100-68_*100-62del ENSP00000462345.1:n.*100-68_*100-62del
NM_018129.3:c.618-68_618-62del NP_060599.1:n.618-68_618-62del
XM_005257500.2:c.378-68_378-62del XP_005257557.1:n.378-68_378-62del
XM_011524968.1:c.333-68_333-62del XP_011523270.1:n.333-68_333-62del
XM_005257500.3:c.378-68_378-62del XP_005257557.1:n.378-68_378-62del
XM_011524968.2:c.333-68_333-62del XP_011523270.1:n.333-68_333-62del
XM_017024813.1:c.378-68_378-62del XP_016880302.1:n.378-68_378-62del
NM_018129.4:c.618-68_618-62del MANE Select NP_060599.1:n.618-68_618-62del