Canonical Allele Identifier: CA2586460511

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861763-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861765_49861766dup , CM000681.2:g.49861765_49861766dup	GRCh38
NC_000019.9:g.50365022_50365023dup , CM000681.1:g.50365022_50365023dup	GRCh37
NC_000019.8:g.55056834_55056835dup	NCBI36
NG_027717.1:g.10801_10802dup
NG_050666.1:g.17922_17923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1298+7_1298+8dup MANE Select	ENSP00000323511.2:n.1298+7_1298+8dup
ENST00000322344.7:c.1298+7_1298+8dup	ENSP00000323511.2:n.1298+7_1298+8dup
ENST00000593946.5:c.*1225+7_*1225+8dup	ENSP00000468896.1:n.*1225+7_*1225+8dup
ENST00000594661.5:n.1799+7_1799+8dup
ENST00000595081.5:n.132_133dup
ENST00000596014.5:c.1298+7_1298+8dup	ENSP00000472300.1:n.1298+7_1298+8dup
ENST00000597965.2:c.5+7_5+8dup	ENSP00000471097.2:n.5+7_5+8dup
ENST00000599454.5:n.149_150dup
ENST00000600573.5:c.1205+7_1205+8dup	ENSP00000469826.1:n.1205+7_1205+8dup
ENST00000600910.5:c.1189-70_1189-69dup	ENSP00000473137.1:n.1189-70_1189-69dup
ENST00000601816.3:n.204_205dup
ENST00000625216.2:c.379+7_379+8dup	ENSP00000486898.1:n.379+7_379+8dup
ENST00000627232.2:c.1218+7_1218+8dup	ENSP00000486037.1:n.1218+7_1218+8dup
ENST00000631020.2:c.1190+7_1190+8dup	ENSP00000486707.1:n.1190+7_1190+8dup
NM_007254.3:c.1298+7_1298+8dup	NP_009185.2:n.1298+7_1298+8dup
NM_007254.4:c.1298+7_1298+8dup MANE Select	NP_009185.2:n.1298+7_1298+8dup