Canonical Allele Identifier: CA2586460332

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861380-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861382_49861383del , CM000681.2:g.49861382_49861383del	GRCh38
NC_000019.9:g.50364639_50364640del , CM000681.1:g.50364639_50364640del	GRCh37
NC_000019.8:g.55056451_55056452del	NCBI36
NG_027717.1:g.11184_11185del
NG_050666.1:g.17539_17540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-17_1449-16del MANE Select	ENSP00000323511.2:n.1449-17_1449-16del
ENST00000636840.1:c.59+226_59+227del
ENST00000640501.1:c.55-21_55-20del
ENST00000322344.7:c.1449-17_1449-16del	ENSP00000323511.2:n.1449-17_1449-16del
ENST00000593946.5:c.*1376-17_*1376-16del	ENSP00000468896.1:n.*1376-17_*1376-16del
ENST00000594661.5:n.1950-17_1950-16del
ENST00000595081.5:n.352-17_352-16del
ENST00000596014.5:c.1449-17_1449-16del	ENSP00000472300.1:n.1449-17_1449-16del
ENST00000597965.2:c.222_223del	ENSP00000471097.2:n.222_223del
ENST00000599454.5:n.369-17_369-16del
ENST00000600573.5:c.1356-17_1356-16del	ENSP00000469826.1:n.1356-17_1356-16del
ENST00000600910.5:c.1339-17_1339-16del	ENSP00000473137.1:n.1339-17_1339-16del
ENST00000601816.3:n.521-17_521-16del
ENST00000625216.2:c.530-17_530-16del	ENSP00000486898.1:n.530-17_530-16del
ENST00000627232.2:c.1369-17_1369-16del	ENSP00000486037.1:n.1369-17_1369-16del
ENST00000631020.2:c.1341-17_1341-16del	ENSP00000486707.1:n.1341-17_1341-16del
NM_007254.3:c.1449-17_1449-16del	NP_009185.2:n.1449-17_1449-16del
NM_007254.4:c.1449-17_1449-16del MANE Select	NP_009185.2:n.1449-17_1449-16del