Canonical Allele Identifier: CA2586460470

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861726-C-CCGCCCACCCCGCCGCAGGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861728_49861748dup , CM000681.2:g.49861728_49861748dup	GRCh38
NC_000019.9:g.50364985_50365005dup , CM000681.1:g.50364985_50365005dup	GRCh37
NC_000019.8:g.55056797_55056817dup	NCBI36
NG_027717.1:g.10819_10839dup
NG_050666.1:g.17885_17905dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1298+25_1299-32dup MANE Select	ENSP00000323511.2:n.1298+25_1299-32dup
ENST00000322344.7:c.1298+25_1299-32dup	ENSP00000323511.2:n.1298+25_1299-32dup
ENST00000593946.5:c.*1225+25_*1226-32dup	ENSP00000468896.1:n.*1225+25_*1226-32dup
ENST00000594661.5:n.1799+25_1800-32dup
ENST00000595081.5:n.150_170dup
ENST00000596014.5:c.1298+25_1299-32dup	ENSP00000472300.1:n.1298+25_1299-32dup
ENST00000597965.2:c.5+25_6-32dup	ENSP00000471097.2:n.5+25_6-32dup
ENST00000599454.5:n.167_187dup
ENST00000600573.5:c.1205+25_1206-32dup	ENSP00000469826.1:n.1205+25_1206-32dup
ENST00000600910.5:c.1189-52_1189-32dup	ENSP00000473137.1:n.1189-52_1189-32dup
ENST00000601816.3:n.222_242dup
ENST00000625216.2:c.379+25_380-32dup	ENSP00000486898.1:n.379+25_380-32dup
ENST00000627232.2:c.1218+25_1219-32dup	ENSP00000486037.1:n.1218+25_1219-32dup
ENST00000631020.2:c.1190+25_1191-32dup	ENSP00000486707.1:n.1190+25_1191-32dup
NM_007254.3:c.1298+25_1299-32dup	NP_009185.2:n.1298+25_1299-32dup
NM_007254.4:c.1298+25_1299-32dup MANE Select	NP_009185.2:n.1298+25_1299-32dup