Canonical Allele Identifier: CA2638499084
Gene: PNPO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946484_47946486dup , CM000679.2:g.47946484_47946486dup GRCh38
NC_000017.10:g.46023850_46023852dup , CM000679.1:g.46023850_46023852dup GRCh37
NC_000017.9:g.43378849_43378851dup NCBI36
NG_008744.1:g.9962_9964dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.488+91_488+93dup ENSP00000225573.5:n.488+91_488+93dup
ENST00000434554.7:c.563+91_563+93dup ENSP00000399960.3:n.563+91_563+93dup
ENST00000582171.6:c.*282+91_*282+93dup ENSP00000463994.1:n.*282+91_*282+93dup
ENST00000583599.6:c.377+91_377+93dup ENSP00000463919.2:n.377+91_377+93dup
ENST00000584061.6:c.548+91_548+93dup ENSP00000463972.2:n.548+91_548+93dup
ENST00000584806.2:n.286+91_286+93dup
ENST00000641285.1:n.397+91_397+93dup
ENST00000641305.1:n.2116+91_2116+93dup
ENST00000641323.1:c.*636+91_*636+93dup ENSP00000492965.1:n.*636+91_*636+93dup
ENST00000641427.1:n.617+91_617+93dup
ENST00000641511.1:c.349+91_349+93dup
ENST00000641703.1:c.333+91_333+93dup ENSP00000493219.1:n.333+91_333+93dup
ENST00000641709.1:c.*439+91_*439+93dup ENSP00000493349.1:n.*439+91_*439+93dup
ENST00000641856.1:c.*1125+91_*1125+93dup ENSP00000493224.1:n.*1125+91_*1125+93dup
ENST00000642017.2:c.617+91_617+93dup MANE Select ENSP00000493302.2:n.617+91_617+93dup
ENST00000225573.4:c.617+91_617+93dup ENSP00000225573.4:n.617+91_617+93dup
ENST00000434554.6:c.488+91_488+93dup ENSP00000399960.2:n.488+91_488+93dup
ENST00000582171.5:c.*282+91_*282+93dup ENSP00000463994.1:n.*282+91_*282+93dup
ENST00000584806.1:n.286+91_286+93dup
ENST00000585320.5:c.*99+91_*99+93dup ENSP00000462345.1:n.*99+91_*99+93dup
NM_018129.3:c.617+91_617+93dup NP_060599.1:n.617+91_617+93dup
XM_005257500.2:c.377+91_377+93dup XP_005257557.1:n.377+91_377+93dup
XM_011524968.1:c.332+91_332+93dup XP_011523270.1:n.332+91_332+93dup
XM_005257500.3:c.377+91_377+93dup XP_005257557.1:n.377+91_377+93dup
XM_011524968.2:c.332+91_332+93dup XP_011523270.1:n.332+91_332+93dup
XM_017024813.1:c.377+91_377+93dup XP_016880302.1:n.377+91_377+93dup
NM_018129.4:c.617+91_617+93dup MANE Select NP_060599.1:n.617+91_617+93dup