Canonical Allele Identifier: CA2340622855

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862412_49862416delinsTGAGA , CM000681.2:g.49862412_49862416delinsTGAGA	GRCh38
NC_000019.9:g.50365669_50365673delinsTGAGA , CM000681.1:g.50365669_50365673delinsTGAGA	GRCh37
NC_000019.8:g.55057481_55057485delinsTGAGA	NCBI36
NG_027717.1:g.10150_10154delinsTCTCA
NG_050666.1:g.18569_18573delinsTGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.984_988delinsTCTCA MANE Select	ENSP00000323511.2:p.Phe328=
ENST00000322344.7:c.984_988delinsTCTCA	ENSP00000323511.2:p.Phe328=
ENST00000593706.3:n.339_343delinsTCTCA
ENST00000593946.5:c.*911_*915delinsTCTCA	ENSP00000468896.1:n.*911_*915delinsTCTCA
ENST00000594661.5:n.1485_1489delinsTCTCA
ENST00000596014.5:c.984_988delinsTCTCA	ENSP00000472300.1:p.Phe328=
ENST00000600573.5:c.936+122_936+126delinsTCTCA	ENSP00000469826.1:n.936+122_936+126delins...
ENST00000600910.5:c.984_988delinsTCTCA	ENSP00000473137.1:p.Phe328=
ENST00000625216.2:c.162_166delinsTCTCA	ENSP00000486898.1:p.Phe54=
ENST00000627232.2:c.904_908delinsTCTCA	ENSP00000486037.1:n.904_908delinsTCTCA
ENST00000627317.1:c.605_609delinsTCTCA
ENST00000629179.1:n.755_759delinsTCTCA
ENST00000631020.2:c.876_880delinsTCTCA	ENSP00000486707.1:p.Phe292=
NM_007254.3:c.984_988delinsTCTCA	NP_009185.2:p.Phe328=
NM_007254.4:c.984_988delinsTCTCA MANE Select	NP_009185.2:p.Phe328=