Canonical Allele Identifier: CA2586460650

Gene: PNKP

Linked Data

• gnomAD v4: 19-49862044-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862045_49862046del , CM000681.2:g.49862045_49862046del	GRCh38
NC_000019.9:g.50365302_50365303del , CM000681.1:g.50365302_50365303del	GRCh37
NC_000019.8:g.55057114_55057115del	NCBI36
NG_027717.1:g.10520_10521del
NG_050666.1:g.18202_18203del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1186_1187del MANE Select	ENSP00000323511.2:p.Arg396GlyfsTer14
ENST00000322344.7:c.1186_1187del	ENSP00000323511.2:p.Arg396GlyfsTer14
ENST00000593706.3:n.620_621del
ENST00000593946.5:c.*1113_*1114del	ENSP00000468896.1:n.*1113_*1114del
ENST00000594661.5:n.1687_1688del
ENST00000596014.5:c.1186_1187del	ENSP00000472300.1:p.Arg396GlyfsTer14
ENST00000599454.5:n.30_31del
ENST00000600573.5:c.1093_1094del	ENSP00000469826.1:p.Arg365GlyfsTer14
ENST00000600910.5:c.1186_1187del	ENSP00000473137.1:p.Arg396GlyfsTer?
ENST00000601816.3:n.85_86del
ENST00000625216.2:c.267_268del	ENSP00000486898.1:n.267_268del
ENST00000627232.2:c.1106_1107del	ENSP00000486037.1:n.1106_1107del
ENST00000631020.2:c.1078_1079del	ENSP00000486707.1:p.Arg360GlyfsTer14
NM_007254.3:c.1186_1187del	NP_009185.2:p.Arg396GlyfsTer14
NM_007254.4:c.1186_1187del MANE Select	NP_009185.2:p.Arg396GlyfsTer14