Canonical Allele Identifier: CA9586403

Gene: PNKP

Linked Data

• dbSNP Id: rs753721118
• ExAC: 19:50364792 CAGGCCCA / C
• gnomAD v2: 19-50364792-CAGGCCCA-C
• gnomAD v3: 19-49861535-CAGGCCCA-C
• gnomAD v4: 19-49861535-CAGGCCCA-C
• MyVariant Identifiers: chr19:g.50364793_50364799del (hg19) ; chr19:g.49861536_49861542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861536_49861542del , CM000681.2:g.49861536_49861542del	GRCh38
NC_000019.9:g.50364793_50364799del , CM000681.1:g.50364793_50364799del	GRCh37
NC_000019.8:g.55056605_55056611del	NCBI36
NG_027717.1:g.11024_11030del
NG_050666.1:g.17693_17699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-32_1387-26del MANE Select	ENSP00000323511.2:n.1387-32_1387-26del
ENST00000636840.1:c.59+66_59+72del
ENST00000322344.7:c.1387-32_1387-26del	ENSP00000323511.2:n.1387-32_1387-26del
ENST00000593946.5:c.*1314-32_*1314-26del	ENSP00000468896.1:n.*1314-32_*1314-26del
ENST00000594661.5:n.1888-32_1888-26del
ENST00000595081.5:n.290-32_290-26del
ENST00000596014.5:c.1387-32_1387-26del	ENSP00000472300.1:n.1387-32_1387-26del
ENST00000597965.2:c.94-32_94-26del	ENSP00000471097.2:n.94-32_94-26del
ENST00000599454.5:n.307-32_307-26del
ENST00000600573.5:c.1294-32_1294-26del	ENSP00000469826.1:n.1294-32_1294-26del
ENST00000600910.5:c.1277-32_1277-26del	ENSP00000473137.1:n.1277-32_1277-26del
ENST00000601816.3:n.427_433del
ENST00000625216.2:c.468-32_468-26del	ENSP00000486898.1:n.468-32_468-26del
ENST00000627232.2:c.1307-32_1307-26del	ENSP00000486037.1:n.1307-32_1307-26del
ENST00000631020.2:c.1279-32_1279-26del	ENSP00000486707.1:n.1279-32_1279-26del
NM_007254.3:c.1387-32_1387-26del	NP_009185.2:n.1387-32_1387-26del
NM_007254.4:c.1387-32_1387-26del MANE Select	NP_009185.2:n.1387-32_1387-26del