Canonical Allele Identifier: CA996725438

Gene: PNKP

Linked Data

• dbSNP Id: rs2074781385
• gnomAD v3: 19-49862412-TGAGA-T
• gnomAD v4: 19-49862412-TGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862413_49862416del , CM000681.2:g.49862413_49862416del	GRCh38
NC_000019.9:g.50365670_50365673del , CM000681.1:g.50365670_50365673del	GRCh37
NC_000019.8:g.55057482_55057485del	NCBI36
NG_027717.1:g.10150_10153del
NG_050666.1:g.18570_18573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.984_987del MANE Select	ENSP00000323511.2:p.Phe328LeufsTer?
ENST00000322344.7:c.984_987del	ENSP00000323511.2:p.Phe328LeufsTer?
ENST00000593706.3:n.339_342del
ENST00000593946.5:c.*911_*914del	ENSP00000468896.1:n.*911_*914del
ENST00000594661.5:n.1485_1488del
ENST00000596014.5:c.984_987del	ENSP00000472300.1:p.Phe328LeufsTer?
ENST00000600573.5:c.936+122_936+125del	ENSP00000469826.1:n.936+122_936+125del
ENST00000600910.5:c.984_987del	ENSP00000473137.1:p.Phe328LeufsTer?
ENST00000625216.2:c.162_165del	ENSP00000486898.1:p.Phe54LeufsTer?
ENST00000627232.2:c.904_907del	ENSP00000486037.1:n.904_907del
ENST00000627317.1:c.605_608del
ENST00000629179.1:n.755_758del
ENST00000631020.2:c.876_879del	ENSP00000486707.1:p.Phe292LeufsTer?
NM_007254.3:c.984_987del	NP_009185.2:p.Phe328LeufsTer?
NM_007254.4:c.984_987del MANE Select	NP_009185.2:p.Phe328LeufsTer?