Canonical Allele Identifier: CA626406321

Gene: PNPO

Linked Data

• dbSNP Id: rs1204785792
• gnomAD v2: 17-46023944-TCCA-T
• gnomAD v4: 17-47946578-TCCA-T
• MyVariant Identifiers: chr17:g.46023945_46023947del (hg19) ; chr17:g.47946579_47946581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946580_47946582del , CM000679.2:g.47946580_47946582del	GRCh38
NC_000017.10:g.46023946_46023948del , CM000679.1:g.46023946_46023948del	GRCh37
NC_000017.9:g.43378945_43378947del	NCBI36
NG_008744.1:g.10058_10060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.489-34_489-32del	ENSP00000225573.5:n.489-34_489-32del
ENST00000434554.7:c.564-34_564-32del	ENSP00000399960.3:n.564-34_564-32del
ENST00000582171.6:c.*283-34_*283-32del	ENSP00000463994.1:n.*283-34_*283-32del
ENST00000583599.6:c.378-34_378-32del	ENSP00000463919.2:n.378-34_378-32del
ENST00000584061.6:c.549-34_549-32del	ENSP00000463972.2:n.549-34_549-32del
ENST00000584806.2:n.287-34_287-32del
ENST00000641285.1:n.398-34_398-32del
ENST00000641305.1:n.2117-34_2117-32del
ENST00000641323.1:c.*637-34_*637-32del	ENSP00000492965.1:n.*637-34_*637-32del
ENST00000641427.1:n.618-34_618-32del
ENST00000641511.1:c.350-34_350-32del
ENST00000641703.1:c.334-34_334-32del	ENSP00000493219.1:n.334-34_334-32del
ENST00000641709.1:c.*440-34_*440-32del	ENSP00000493349.1:n.*440-34_*440-32del
ENST00000641856.1:c.*1126-34_*1126-32del	ENSP00000493224.1:n.*1126-34_*1126-32del
ENST00000642017.2:c.618-34_618-32del MANE Select	ENSP00000493302.2:n.618-34_618-32del
ENST00000225573.4:c.618-34_618-32del	ENSP00000225573.4:n.618-34_618-32del
ENST00000434554.6:c.489-34_489-32del	ENSP00000399960.2:n.489-34_489-32del
ENST00000582171.5:c.*283-34_*283-32del	ENSP00000463994.1:n.*283-34_*283-32del
ENST00000584806.1:n.287-34_287-32del
ENST00000585320.5:c.*100-34_*100-32del	ENSP00000462345.1:n.*100-34_*100-32del
NM_018129.3:c.618-34_618-32del	NP_060599.1:n.618-34_618-32del
XM_005257500.2:c.378-34_378-32del	XP_005257557.1:n.378-34_378-32del
XM_011524968.1:c.333-34_333-32del	XP_011523270.1:n.333-34_333-32del
XM_005257500.3:c.378-34_378-32del	XP_005257557.1:n.378-34_378-32del
XM_011524968.2:c.333-34_333-32del	XP_011523270.1:n.333-34_333-32del
XM_017024813.1:c.378-34_378-32del	XP_016880302.1:n.378-34_378-32del
NM_018129.4:c.618-34_618-32del MANE Select	NP_060599.1:n.618-34_618-32del