Canonical Allele Identifier: CA633894449

Gene: PNKP

Linked Data

• dbSNP Id: rs557301449
• gnomAD v2: 19-50364836-CG-C
• gnomAD v4: 19-49861579-CG-C
• MyVariant Identifiers: chr19:g.50364837del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861585del , CM000681.2:g.49861585del	GRCh38
NC_000019.9:g.50364842del , CM000681.1:g.50364842del	GRCh37
NC_000019.8:g.55056654del	NCBI36
NG_027717.1:g.10986del
NG_050666.1:g.17742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+28del MANE Select	ENSP00000323511.2:n.1386+28del
ENST00000636840.1:c.59+28del
ENST00000322344.7:c.1386+28del	ENSP00000323511.2:n.1386+28del
ENST00000593946.5:c.*1313+28del	ENSP00000468896.1:n.*1313+28del
ENST00000594661.5:n.1887+28del
ENST00000595081.5:n.289+28del
ENST00000596014.5:c.1386+28del	ENSP00000472300.1:n.1386+28del
ENST00000597965.2:c.93+28del	ENSP00000471097.2:n.93+28del
ENST00000599454.5:n.306+28del
ENST00000600573.5:c.1293+28del	ENSP00000469826.1:n.1293+28del
ENST00000600910.5:c.1276+28del	ENSP00000473137.1:n.1276+28del
ENST00000601816.3:n.389del
ENST00000625216.2:c.467+28del	ENSP00000486898.1:n.467+28del
ENST00000627232.2:c.1306+28del	ENSP00000486037.1:n.1306+28del
ENST00000631020.2:c.1278+28del	ENSP00000486707.1:n.1278+28del
NM_007254.3:c.1386+28del	NP_009185.2:n.1386+28del
NM_007254.4:c.1386+28del MANE Select	NP_009185.2:n.1386+28del