Canonical Allele Identifier: CA2262900766
Gene: PNPO HGNC NCBI

Linked Data

dbSNP Id: rs2036019519

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946981del , CM000679.2:g.47946981del GRCh38
NC_000017.10:g.46024347del , CM000679.1:g.46024347del GRCh37
NC_000017.9:g.43379346del NCBI36
NG_008744.1:g.10459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.*199del ENSP00000225573.5:n.*199del
ENST00000434554.7:c.*199del ENSP00000399960.3:n.*199del
ENST00000582171.6:c.*650del ENSP00000463994.1:n.*650del
ENST00000584806.2:n.654del
ENST00000641305.1:n.2484del
ENST00000641323.1:c.*1004del ENSP00000492965.1:n.*1004del
ENST00000641427.1:n.985del
ENST00000641703.1:c.701del ENSP00000493219.1:n.701del
ENST00000641709.1:c.*807del ENSP00000493349.1:n.*807del
ENST00000641856.1:c.*1493del ENSP00000493224.1:n.*1493del
ENST00000642017.2:c.*199del MANE Select ENSP00000493302.2:n.*199del
ENST00000225573.4:c.*199del ENSP00000225573.4:n.*199del
ENST00000434554.6:c.*199del ENSP00000399960.2:n.*199del
ENST00000582171.5:c.*650del ENSP00000463994.1:n.*650del
NM_018129.3:c.*199del NP_060599.1:n.*199del
XM_005257500.2:c.*199del XP_005257557.1:n.*199del
XM_011524968.1:c.*199del XP_011523270.1:n.*199del
XM_005257500.3:c.*199del XP_005257557.1:n.*199del
XM_011524968.2:c.*199del XP_011523270.1:n.*199del
XM_017024813.1:c.*199del XP_016880302.1:n.*199del
NM_018129.4:c.*199del MANE Select NP_060599.1:n.*199del