Canonical Allele Identifier: CA2586460718

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862316-C-CCCCATCCCCGGGAGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862326_49862343dup , CM000681.2:g.49862326_49862343dup	GRCh38
NC_000019.9:g.50365583_50365600dup , CM000681.1:g.50365583_50365600dup	GRCh37
NC_000019.8:g.55057395_55057412dup	NCBI36
NG_027717.1:g.10232_10249dup
NG_050666.1:g.18483_18500dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1029+37_1030-36dup MANE Select	ENSP00000323511.2:n.1029+37_1030-36dup
ENST00000322344.7:c.1029+37_1030-36dup	ENSP00000323511.2:n.1029+37_1030-36dup
ENST00000593706.3:n.384+37_385-36dup
ENST00000593946.5:c.*956+37_*957-36dup	ENSP00000468896.1:n.*956+37_*957-36dup
ENST00000594661.5:n.1530+37_1531-36dup
ENST00000596014.5:c.1029+37_1030-36dup	ENSP00000472300.1:n.1029+37_1030-36dup
ENST00000600573.5:c.937-53_937-36dup	ENSP00000469826.1:n.937-53_937-36dup
ENST00000600910.5:c.1029+37_1030-36dup	ENSP00000473137.1:n.1029+37_1030-36dup
ENST00000625216.2:c.207+37_207+54dup	ENSP00000486898.1:n.207+37_207+54dup
ENST00000627232.2:c.949+37_950-36dup	ENSP00000486037.1:n.949+37_950-36dup
ENST00000627317.1:c.650+37_651-36dup
ENST00000629179.1:n.800+37_801-36dup
ENST00000631020.2:c.921+37_922-36dup	ENSP00000486707.1:n.921+37_922-36dup
NM_007254.3:c.1029+37_1030-36dup	NP_009185.2:n.1029+37_1030-36dup
NM_007254.4:c.1029+37_1030-36dup MANE Select	NP_009185.2:n.1029+37_1030-36dup