Canonical Allele Identifier: CA2340622859

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862415_49862416delinsGA , CM000681.2:g.49862415_49862416delinsGA	GRCh38
NC_000019.9:g.50365672_50365673delinsGA , CM000681.1:g.50365672_50365673delinsGA	GRCh37
NC_000019.8:g.55057484_55057485delinsGA	NCBI36
NG_027717.1:g.10150_10151delinsTC
NG_050666.1:g.18572_18573delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.984_985delinsTC MANE Select	ENSP00000323511.2:p.Phe328=
ENST00000322344.7:c.984_985delinsTC	ENSP00000323511.2:p.Phe328=
ENST00000593706.3:n.339_340delinsTC
ENST00000593946.5:c.*911_*912delinsTC	ENSP00000468896.1:n.*911_*912delinsTC
ENST00000594661.5:n.1485_1486delinsTC
ENST00000596014.5:c.984_985delinsTC	ENSP00000472300.1:p.Phe328=
ENST00000600573.5:c.936+122_936+123delinsTC	ENSP00000469826.1:n.936+122_936+123delins...
ENST00000600910.5:c.984_985delinsTC	ENSP00000473137.1:p.Phe328=
ENST00000625216.2:c.162_163delinsTC	ENSP00000486898.1:p.Phe54=
ENST00000627232.2:c.904_905delinsTC	ENSP00000486037.1:n.904_905delinsTC
ENST00000627317.1:c.605_606delinsTC
ENST00000629179.1:n.755_756delinsTC
ENST00000631020.2:c.876_877delinsTC	ENSP00000486707.1:p.Phe292=
NM_007254.3:c.984_985delinsTC	NP_009185.2:p.Phe328=
NM_007254.4:c.984_985delinsTC MANE Select	NP_009185.2:p.Phe328=