Canonical Allele Identifier: CA2586460363

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861458-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861459del , CM000681.2:g.49861459del	GRCh38
NC_000019.9:g.50364716del , CM000681.1:g.50364716del	GRCh37
NC_000019.8:g.55056528del	NCBI36
NG_027717.1:g.11107del
NG_050666.1:g.17616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1438del MANE Select	ENSP00000323511.2:p.Tyr480MetfsTer?
ENST00000636840.1:c.59+149del
ENST00000640501.1:c.44del
ENST00000322344.7:c.1438del	ENSP00000323511.2:p.Tyr480MetfsTer?
ENST00000593946.5:c.*1365del	ENSP00000468896.1:n.*1365del
ENST00000594661.5:n.1939del
ENST00000595081.5:n.341del
ENST00000596014.5:c.1438del	ENSP00000472300.1:p.Tyr480MetfsTer?
ENST00000597965.2:c.145del	ENSP00000471097.2:p.Tyr49MetfsTer?
ENST00000599454.5:n.358del
ENST00000600573.5:c.1345del	ENSP00000469826.1:p.Tyr449MetfsTer?
ENST00000600910.5:c.1328del	ENSP00000473137.1:p.Val443AspfsTer?
ENST00000601816.3:n.510del
ENST00000625216.2:c.519del	ENSP00000486898.1:n.519del
ENST00000627232.2:c.1358del	ENSP00000486037.1:n.1358del
ENST00000631020.2:c.1330del	ENSP00000486707.1:p.Tyr444MetfsTer?
NM_007254.3:c.1438del	NP_009185.2:p.Tyr480MetfsTer?
NM_007254.4:c.1438del MANE Select	NP_009185.2:p.Tyr480MetfsTer?