Canonical Allele Identifier: CA984292160

Gene: PNPO

Linked Data

• dbSNP Id: rs2036012917
• gnomAD v3: 17-47946622-ATG-A
• gnomAD v4: 17-47946622-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946624_47946625del , CM000679.2:g.47946624_47946625del	GRCh38
NC_000017.10:g.46023990_46023991del , CM000679.1:g.46023990_46023991del	GRCh37
NC_000017.9:g.43378989_43378990del	NCBI36
NG_008744.1:g.10102_10103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.499_500del	ENSP00000225573.5:p.Val167ProfsTer18
ENST00000434554.7:c.574_575del	ENSP00000399960.3:p.Val192ProfsTer18
ENST00000582171.6:c.*293_*294del	ENSP00000463994.1:n.*293_*294del
ENST00000583599.6:c.388_389del	ENSP00000463919.2:p.Val130ProfsTer18
ENST00000584061.6:c.559_560del	ENSP00000463972.2:p.Val187ProfsTer18
ENST00000584806.2:n.297_298del
ENST00000641285.1:n.408_409del
ENST00000641305.1:n.2127_2128del
ENST00000641323.1:c.*647_*648del	ENSP00000492965.1:n.*647_*648del
ENST00000641427.1:n.628_629del
ENST00000641511.1:c.360_361del
ENST00000641703.1:c.344_345del	ENSP00000493219.1:n.344_345del
ENST00000641709.1:c.*450_*451del	ENSP00000493349.1:n.*450_*451del
ENST00000641856.1:c.*1136_*1137del	ENSP00000493224.1:n.*1136_*1137del
ENST00000642017.2:c.628_629del MANE Select	ENSP00000493302.2:p.Val210ProfsTer18
ENST00000225573.4:c.628_629del	ENSP00000225573.4:p.Val210ProfsTer18
ENST00000434554.6:c.499_500del	ENSP00000399960.2:p.Val167ProfsTer18
ENST00000582171.5:c.*293_*294del	ENSP00000463994.1:n.*293_*294del
ENST00000584806.1:n.297_298del
ENST00000585320.5:c.*110_*111del	ENSP00000462345.1:n.*110_*111del
NM_018129.3:c.628_629del	NP_060599.1:p.Val210ProfsTer18
XM_005257500.2:c.388_389del	XP_005257557.1:p.Val130ProfsTer18
XM_011524968.1:c.343_344del	XP_011523270.1:p.Val115ProfsTer18
XM_005257500.3:c.388_389del	XP_005257557.1:p.Val130ProfsTer18
XM_011524968.2:c.343_344del	XP_011523270.1:p.Val115ProfsTer18
XM_017024813.1:c.388_389del	XP_016880302.1:p.Val130ProfsTer18
NM_018129.4:c.628_629del MANE Select	NP_060599.1:p.Val210ProfsTer18