Canonical Allele Identifier: CA2586460553

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861817-CGTTTCCCTTGCTTCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861819_49861834del , CM000681.2:g.49861819_49861834del	GRCh38
NC_000019.9:g.50365076_50365091del , CM000681.1:g.50365076_50365091del	GRCh37
NC_000019.8:g.55056888_55056903del	NCBI36
NG_027717.1:g.10733_10748del
NG_050666.1:g.17976_17991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1237_1252del MANE Select	ENSP00000323511.2:p.Leu413GlyfsTer?
ENST00000322344.7:c.1237_1252del	ENSP00000323511.2:p.Leu413GlyfsTer?
ENST00000593706.3:n.833_848del
ENST00000593946.5:c.*1164_*1179del	ENSP00000468896.1:n.*1164_*1179del
ENST00000594661.5:n.1738_1753del
ENST00000595081.5:n.64_79del
ENST00000596014.5:c.1237_1252del	ENSP00000472300.1:p.Leu413GlyfsTer?
ENST00000599454.5:n.81_96del
ENST00000600573.5:c.1144_1159del	ENSP00000469826.1:p.Leu382GlyfsTer?
ENST00000600910.5:c.1189-138_1189-123del	ENSP00000473137.1:n.1189-138_1189-123del
ENST00000601816.3:n.136_151del
ENST00000625216.2:c.318_333del	ENSP00000486898.1:n.318_333del
ENST00000627232.2:c.1157_1172del	ENSP00000486037.1:n.1157_1172del
ENST00000631020.2:c.1129_1144del	ENSP00000486707.1:p.Leu377GlyfsTer?
NM_007254.3:c.1237_1252del	NP_009185.2:p.Leu413GlyfsTer?
NM_007254.4:c.1237_1252del MANE Select	NP_009185.2:p.Leu413GlyfsTer?