Canonical Allele Identifier: CA9586406

Gene: PNKP

Linked Data

• dbSNP Id: rs754828474
• ExAC: 19:50364794 GGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA / G
• gnomAD v2: 19-50364794-GGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA-G
• gnomAD v4: 19-49861537-GGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCA-G
• MyVariant Identifiers: chr19:g.50364795_50364832del (hg19) ; chr19:g.49861538_49861575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861542_49861579del , CM000681.2:g.49861542_49861579del	GRCh38
NC_000019.9:g.50364799_50364836del , CM000681.1:g.50364799_50364836del	GRCh37
NC_000019.8:g.55056611_55056648del	NCBI36
NG_027717.1:g.10991_11028del
NG_050666.1:g.17699_17736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1386+33_1387-28del MANE Select	ENSP00000323511.2:n.1386+33_1387-28del
ENST00000636840.1:c.59+33_59+70del
ENST00000322344.7:c.1386+33_1387-28del	ENSP00000323511.2:n.1386+33_1387-28del
ENST00000593946.5:c.*1313+33_*1314-28del	ENSP00000468896.1:n.*1313+33_*1314-28del
ENST00000594661.5:n.1887+33_1888-28del
ENST00000595081.5:n.289+33_290-28del
ENST00000596014.5:c.1386+33_1387-28del	ENSP00000472300.1:n.1386+33_1387-28del
ENST00000597965.2:c.93+33_94-28del	ENSP00000471097.2:n.93+33_94-28del
ENST00000599454.5:n.306+33_307-28del
ENST00000600573.5:c.1293+33_1294-28del	ENSP00000469826.1:n.1293+33_1294-28del
ENST00000600910.5:c.1276+33_1277-28del	ENSP00000473137.1:n.1276+33_1277-28del
ENST00000601816.3:n.394_431del
ENST00000625216.2:c.467+33_468-28del	ENSP00000486898.1:n.467+33_468-28del
ENST00000627232.2:c.1306+33_1307-28del	ENSP00000486037.1:n.1306+33_1307-28del
ENST00000631020.2:c.1278+33_1279-28del	ENSP00000486707.1:n.1278+33_1279-28del
NM_007254.3:c.1386+33_1387-28del	NP_009185.2:n.1386+33_1387-28del
NM_007254.4:c.1386+33_1387-28del MANE Select	NP_009185.2:n.1386+33_1387-28del