Canonical Allele Identifier: CA2340622120

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861564_49861573delinsTCAGGGGGTG , CM000681.2:g.49861564_49861573delinsTCAGGGGGTG	GRCh38
NC_000019.9:g.50364821_50364830delinsTCAGGGGGTG , CM000681.1:g.50364821_50364830delinsTCAGGGGGTG	GRCh37
NC_000019.8:g.55056633_55056642delinsTCAGGGGGTG	NCBI36
NG_027717.1:g.10993_11002delinsCACCCCCTGA
NG_050666.1:g.17721_17730delinsTCAGGGGGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1386+35_1386+44delinsCACCCCCTGA MANE Select	ENSP00000323511.2:n.1386+35_1386+44delinsCACCCCCTGA
ENST00000636840.1:c.59+35_59+44delinsCACCCCCTGA
ENST00000322344.7:c.1386+35_1386+44delinsCACCCCCTGA	ENSP00000323511.2:n.1386+35_1386+44delinsCACCCCCTGA
ENST00000593946.5:c.*1313+35_*1313+44delinsCACCCCCTGA	ENSP00000468896.1:n.*1313+35_*1313+44delinsCACCCCCTGA
ENST00000594661.5:n.1887+35_1887+44delinsCACCCCCTGA
ENST00000595081.5:n.289+35_289+44delinsCACCCCCTGA
ENST00000596014.5:c.1386+35_1386+44delinsCACCCCCTGA	ENSP00000472300.1:n.1386+35_1386+44delinsCACCCCCTGA
ENST00000597965.2:c.93+35_93+44delinsCACCCCCTGA	ENSP00000471097.2:n.93+35_93+44delinsCACCCCCTGA
ENST00000599454.5:n.306+35_306+44delinsCACCCCCTGA
ENST00000600573.5:c.1293+35_1293+44delinsCACCCCCTGA	ENSP00000469826.1:n.1293+35_1293+44delinsCACCCCCTGA
ENST00000600910.5:c.1276+35_1276+44delinsCACCCCCTGA	ENSP00000473137.1:n.1276+35_1276+44delinsCACCCCCTGA
ENST00000601816.3:n.396_405delinsCACCCCCTGA
ENST00000625216.2:c.467+35_467+44delinsCACCCCCTGA	ENSP00000486898.1:n.467+35_467+44delinsCACCCCCTGA
ENST00000627232.2:c.1306+35_1306+44delinsCACCCCCTGA	ENSP00000486037.1:n.1306+35_1306+44delinsCACCCCCTGA
ENST00000631020.2:c.1278+35_1278+44delinsCACCCCCTGA	ENSP00000486707.1:n.1278+35_1278+44delinsCACCCCCTGA
NM_007254.3:c.1386+35_1386+44delinsCACCCCCTGA	NP_009185.2:n.1386+35_1386+44delinsCACCCCCTGA
NM_007254.4:c.1386+35_1386+44delinsCACCCCCTGA MANE Select	NP_009185.2:n.1386+35_1386+44delinsCACCCCCTGA