Canonical Allele Identifier: CA2262900718

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946864_47946865delinsTA , CM000679.2:g.47946864_47946865delinsTA	GRCh38
NC_000017.10:g.46024230_46024231delinsTA , CM000679.1:g.46024230_46024231delinsTA	GRCh37
NC_000017.9:g.43379229_43379230delinsTA	NCBI36
NG_008744.1:g.10342_10343delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*82_*83delinsTA	ENSP00000225573.5:n.*82_*83delinsTA
ENST00000434554.7:c.*82_*83delinsTA	ENSP00000399960.3:n.*82_*83delinsTA
ENST00000582171.6:c.*533_*534delinsTA	ENSP00000463994.1:n.*533_*534delinsTA
ENST00000584806.2:n.537_538delinsTA
ENST00000641305.1:n.2367_2368delinsTA
ENST00000641323.1:c.*887_*888delinsTA	ENSP00000492965.1:n.*887_*888delinsTA
ENST00000641427.1:n.868_869delinsTA
ENST00000641703.1:c.584_585delinsTA	ENSP00000493219.1:n.584_585delinsTA
ENST00000641709.1:c.*690_*691delinsTA	ENSP00000493349.1:n.*690_*691delinsTA
ENST00000641856.1:c.*1376_*1377delinsTA	ENSP00000493224.1:n.*1376_*1377delinsTA
ENST00000642017.2:c.*82_*83delinsTA MANE Select	ENSP00000493302.2:n.*82_*83delinsTA
ENST00000225573.4:c.*82_*83delinsTA	ENSP00000225573.4:n.*82_*83delinsTA
ENST00000434554.6:c.*82_*83delinsTA	ENSP00000399960.2:n.*82_*83delinsTA
ENST00000582171.5:c.*533_*534delinsTA	ENSP00000463994.1:n.*533_*534delinsTA
ENST00000584806.1:n.537_538delinsTA
NM_018129.3:c.*82_*83delinsTA	NP_060599.1:n.*82_*83delinsTA
XM_005257500.2:c.*82_*83delinsTA	XP_005257557.1:n.*82_*83delinsTA
XM_011524968.1:c.*82_*83delinsTA	XP_011523270.1:n.*82_*83delinsTA
XM_005257500.3:c.*82_*83delinsTA	XP_005257557.1:n.*82_*83delinsTA
XM_011524968.2:c.*82_*83delinsTA	XP_011523270.1:n.*82_*83delinsTA
XM_017024813.1:c.*82_*83delinsTA	XP_016880302.1:n.*82_*83delinsTA
NM_018129.4:c.*82_*83delinsTA MANE Select	NP_060599.1:n.*82_*83delinsTA