Canonical Allele Identifier: CA772599172

Gene: PNPO

Linked Data

• dbSNP Id: rs1307458334
• gnomAD v3: 17-47946900-C-CA
• gnomAD v4: 17-47946900-C-CA
• MyVariant Identifiers: chr17:g.46024266_46024267insA (hg19) ; chr17:g.47946900_47946901insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946901dup , CM000679.2:g.47946901dup	GRCh38
NC_000017.10:g.46024267dup , CM000679.1:g.46024267dup	GRCh37
NC_000017.9:g.43379266dup	NCBI36
NG_008744.1:g.10379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*119dup	ENSP00000225573.5:n.*119dup
ENST00000434554.7:c.*119dup	ENSP00000399960.3:n.*119dup
ENST00000582171.6:c.*570dup	ENSP00000463994.1:n.*570dup
ENST00000584806.2:n.574dup
ENST00000641305.1:n.2404dup
ENST00000641323.1:c.*924dup	ENSP00000492965.1:n.*924dup
ENST00000641427.1:n.905dup
ENST00000641703.1:c.621dup	ENSP00000493219.1:n.621dup
ENST00000641709.1:c.*727dup	ENSP00000493349.1:n.*727dup
ENST00000641856.1:c.*1413dup	ENSP00000493224.1:n.*1413dup
ENST00000642017.2:c.*119dup MANE Select	ENSP00000493302.2:n.*119dup
ENST00000225573.4:c.*119dup	ENSP00000225573.4:n.*119dup
ENST00000434554.6:c.*119dup	ENSP00000399960.2:n.*119dup
ENST00000582171.5:c.*570dup	ENSP00000463994.1:n.*570dup
NM_018129.3:c.*119dup	NP_060599.1:n.*119dup
XM_005257500.2:c.*119dup	XP_005257557.1:n.*119dup
XM_011524968.1:c.*119dup	XP_011523270.1:n.*119dup
XM_005257500.3:c.*119dup	XP_005257557.1:n.*119dup
XM_011524968.2:c.*119dup	XP_011523270.1:n.*119dup
XM_017024813.1:c.*119dup	XP_016880302.1:n.*119dup
NM_018129.4:c.*119dup MANE Select	NP_060599.1:n.*119dup