Canonical Allele Identifier: CA2586460337

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861387-A-AGGGACAGCCTGGATCATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861390_49861408dup , CM000681.2:g.49861390_49861408dup	GRCh38
NC_000019.9:g.50364647_50364665dup , CM000681.1:g.50364647_50364665dup	GRCh37
NC_000019.8:g.55056459_55056477dup	NCBI36
NG_027717.1:g.11160_11178dup
NG_050666.1:g.17547_17565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-41_1449-23dup MANE Select	ENSP00000323511.2:n.1449-41_1449-23dup
ENST00000636840.1:c.59+202_59+220dup
ENST00000640501.1:c.54+43_55-27dup
ENST00000322344.7:c.1449-41_1449-23dup	ENSP00000323511.2:n.1449-41_1449-23dup
ENST00000593946.5:c.*1376-41_*1376-23dup	ENSP00000468896.1:n.*1376-41_*1376-23dup
ENST00000594661.5:n.1950-41_1950-23dup
ENST00000595081.5:n.352-41_352-23dup
ENST00000596014.5:c.1449-41_1449-23dup	ENSP00000472300.1:n.1449-41_1449-23dup
ENST00000597965.2:c.198_216dup	ENSP00000471097.2:n.198_216dup
ENST00000599454.5:n.369-41_369-23dup
ENST00000600573.5:c.1356-41_1356-23dup	ENSP00000469826.1:n.1356-41_1356-23dup
ENST00000600910.5:c.1339-41_1339-23dup	ENSP00000473137.1:n.1339-41_1339-23dup
ENST00000601816.3:n.521-41_521-23dup
ENST00000625216.2:c.530-41_530-23dup	ENSP00000486898.1:n.530-41_530-23dup
ENST00000627232.2:c.1369-41_1369-23dup	ENSP00000486037.1:n.1369-41_1369-23dup
ENST00000631020.2:c.1341-41_1341-23dup	ENSP00000486707.1:n.1341-41_1341-23dup
NM_007254.3:c.1449-41_1449-23dup	NP_009185.2:n.1449-41_1449-23dup
NM_007254.4:c.1449-41_1449-23dup MANE Select	NP_009185.2:n.1449-41_1449-23dup