Canonical Allele Identifier: CA633895323

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2854031
• ClinVar RCV Id: RCV003640281
• dbSNP Id: rs1568660169
• gnomAD v2: 19-50365670-GAGAA-G
• gnomAD v4: 19-49862413-GAGAA-G
• MyVariant Identifiers: chr19:g.50365671_50365674del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862418_49862421del , CM000681.2:g.49862418_49862421del	GRCh38
NC_000019.9:g.50365675_50365678del , CM000681.1:g.50365675_50365678del	GRCh37
NC_000019.8:g.55057487_55057490del	NCBI36
NG_027717.1:g.10149_10152del
NG_050666.1:g.18575_18578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.983_986del MANE Select	ENSP00000323511.2:p.Phe328SerfsTer?
ENST00000322344.7:c.983_986del	ENSP00000323511.2:p.Phe328SerfsTer?
ENST00000593706.3:n.338_341del
ENST00000593946.5:c.*910_*913del	ENSP00000468896.1:n.*910_*913del
ENST00000594661.5:n.1484_1487del
ENST00000596014.5:c.983_986del	ENSP00000472300.1:p.Phe328SerfsTer?
ENST00000600573.5:c.936+121_936+124del	ENSP00000469826.1:n.936+121_936+124del
ENST00000600910.5:c.983_986del	ENSP00000473137.1:p.Phe328SerfsTer?
ENST00000625216.2:c.161_164del	ENSP00000486898.1:p.Phe54SerfsTer?
ENST00000627232.2:c.903_906del	ENSP00000486037.1:n.903_906del
ENST00000627317.1:c.604_607del
ENST00000629179.1:n.754_757del
ENST00000631020.2:c.875_878del	ENSP00000486707.1:p.Phe292SerfsTer?
NM_007254.3:c.983_986del	NP_009185.2:p.Phe328SerfsTer?
NM_007254.4:c.983_986del MANE Select	NP_009185.2:p.Phe328SerfsTer?