Canonical Allele Identifier: CA2569421810

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861536-AGGCCCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861539_49861545del , CM000681.2:g.49861539_49861545del	GRCh38
NC_000019.9:g.50364796_50364802del , CM000681.1:g.50364796_50364802del	GRCh37
NC_000019.8:g.55056608_55056614del	NCBI36
NG_027717.1:g.11023_11029del
NG_050666.1:g.17696_17702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-33_1387-27del MANE Select	ENSP00000323511.2:n.1387-33_1387-27del
ENST00000636840.1:c.59+65_59+71del
ENST00000322344.7:c.1387-33_1387-27del	ENSP00000323511.2:n.1387-33_1387-27del
ENST00000593946.5:c.*1314-33_*1314-27del	ENSP00000468896.1:n.*1314-33_*1314-27del
ENST00000594661.5:n.1888-33_1888-27del
ENST00000595081.5:n.290-33_290-27del
ENST00000596014.5:c.1387-33_1387-27del	ENSP00000472300.1:n.1387-33_1387-27del
ENST00000597965.2:c.94-33_94-27del	ENSP00000471097.2:n.94-33_94-27del
ENST00000599454.5:n.307-33_307-27del
ENST00000600573.5:c.1294-33_1294-27del	ENSP00000469826.1:n.1294-33_1294-27del
ENST00000600910.5:c.1277-33_1277-27del	ENSP00000473137.1:n.1277-33_1277-27del
ENST00000601816.3:n.426_432del
ENST00000625216.2:c.468-33_468-27del	ENSP00000486898.1:n.468-33_468-27del
ENST00000627232.2:c.1307-33_1307-27del	ENSP00000486037.1:n.1307-33_1307-27del
ENST00000631020.2:c.1279-33_1279-27del	ENSP00000486707.1:n.1279-33_1279-27del
NM_007254.3:c.1387-33_1387-27del	NP_009185.2:n.1387-33_1387-27del
NM_007254.4:c.1387-33_1387-27del MANE Select	NP_009185.2:n.1387-33_1387-27del