Canonical Allele Identifier: CA9586399

Gene: PNKP

Linked Data

• dbSNP Id: rs766310570
• ExAC: 19:50364783 GAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC / G
• gnomAD v2: 19-50364783-GAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC-G
• gnomAD v4: 19-49861526-GAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTC-G
• MyVariant Identifiers: chr19:g.50364784_50364822del (hg19) ; chr19:g.49861527_49861565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861532_49861570del , CM000681.2:g.49861532_49861570del	GRCh38
NC_000019.9:g.50364789_50364827del , CM000681.1:g.50364789_50364827del	GRCh37
NC_000019.8:g.55056601_55056639del	NCBI36
NG_027717.1:g.11001_11039del
NG_050666.1:g.17689_17727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1386+43_1387-17del MANE Select	ENSP00000323511.2:n.1386+43_1387-17del
ENST00000636840.1:c.59+43_59+81del
ENST00000322344.7:c.1386+43_1387-17del	ENSP00000323511.2:n.1386+43_1387-17del
ENST00000593946.5:c.*1313+43_*1314-17del	ENSP00000468896.1:n.*1313+43_*1314-17del
ENST00000594661.5:n.1887+43_1888-17del
ENST00000595081.5:n.289+43_290-17del
ENST00000596014.5:c.1386+43_1387-17del	ENSP00000472300.1:n.1386+43_1387-17del
ENST00000597965.2:c.93+43_94-17del	ENSP00000471097.2:n.93+43_94-17del
ENST00000599454.5:n.306+43_307-17del
ENST00000600573.5:c.1293+43_1294-17del	ENSP00000469826.1:n.1293+43_1294-17del
ENST00000600910.5:c.1276+43_1277-17del	ENSP00000473137.1:n.1276+43_1277-17del
ENST00000601816.3:n.404_442del
ENST00000625216.2:c.467+43_468-17del	ENSP00000486898.1:n.467+43_468-17del
ENST00000627232.2:c.1306+43_1307-17del	ENSP00000486037.1:n.1306+43_1307-17del
ENST00000631020.2:c.1278+43_1279-17del	ENSP00000486707.1:n.1278+43_1279-17del
NM_007254.3:c.1386+43_1387-17del	NP_009185.2:n.1386+43_1387-17del
NM_007254.4:c.1386+43_1387-17del MANE Select	NP_009185.2:n.1386+43_1387-17del