Canonical Allele Identifier: CA2586460361

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861454-G-GCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861455_49861458dup , CM000681.2:g.49861455_49861458dup	GRCh38
NC_000019.9:g.50364712_50364715dup , CM000681.1:g.50364712_50364715dup	GRCh37
NC_000019.8:g.55056524_55056527dup	NCBI36
NG_027717.1:g.11108_11111dup
NG_050666.1:g.17612_17615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1439_1442dup MANE Select	ENSP00000323511.2:p.Tyr482TrpfsTer13
ENST00000636840.1:c.59+150_59+153dup
ENST00000640501.1:c.45_48dup
ENST00000322344.7:c.1439_1442dup	ENSP00000323511.2:p.Tyr482TrpfsTer13
ENST00000593946.5:c.*1366_*1369dup	ENSP00000468896.1:n.*1366_*1369dup
ENST00000594661.5:n.1940_1943dup
ENST00000595081.5:n.342_345dup
ENST00000596014.5:c.1439_1442dup	ENSP00000472300.1:p.Tyr482TrpfsTer13
ENST00000597965.2:c.146_149dup	ENSP00000471097.2:p.Tyr51TrpfsTer19
ENST00000599454.5:n.359_362dup
ENST00000600573.5:c.1346_1349dup	ENSP00000469826.1:p.Tyr451TrpfsTer13
ENST00000600910.5:c.1329_1332dup	ENSP00000473137.1:p.Leu445MetfsTer?
ENST00000601816.3:n.511_514dup
ENST00000625216.2:c.520_523dup	ENSP00000486898.1:n.520_523dup
ENST00000627232.2:c.1359_1362dup	ENSP00000486037.1:n.1359_1362dup
ENST00000631020.2:c.1331_1334dup	ENSP00000486707.1:p.Tyr446TrpfsTer13
NM_007254.3:c.1439_1442dup	NP_009185.2:p.Tyr482TrpfsTer13
NM_007254.4:c.1439_1442dup MANE Select	NP_009185.2:p.Tyr482TrpfsTer13