Canonical Allele Identifier: CA2586460556

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861851-TCACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861854_49861857del , CM000681.2:g.49861854_49861857del	GRCh38
NC_000019.9:g.50365111_50365114del , CM000681.1:g.50365111_50365114del	GRCh37
NC_000019.8:g.55056923_55056926del	NCBI36
NG_027717.1:g.10711_10714del
NG_050666.1:g.18011_18014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1215_1218del MANE Select	ENSP00000323511.2:p.Cys405Ter
ENST00000322344.7:c.1215_1218del	ENSP00000323511.2:p.Cys405Ter
ENST00000593706.3:n.811_814del
ENST00000593946.5:c.*1142_*1145del	ENSP00000468896.1:n.*1142_*1145del
ENST00000594661.5:n.1716_1719del
ENST00000595081.5:n.42_45del
ENST00000596014.5:c.1215_1218del	ENSP00000472300.1:p.Cys405Ter
ENST00000599454.5:n.59_62del
ENST00000600573.5:c.1122_1125del	ENSP00000469826.1:p.Cys374Ter
ENST00000600910.5:c.1189-160_1189-157del	ENSP00000473137.1:n.1189-160_1189-157del
ENST00000601816.3:n.114_117del
ENST00000625216.2:c.296_299del	ENSP00000486898.1:n.296_299del
ENST00000627232.2:c.1135_1138del	ENSP00000486037.1:n.1135_1138del
ENST00000631020.2:c.1107_1110del	ENSP00000486707.1:p.Cys369Ter
NM_007254.3:c.1215_1218del	NP_009185.2:p.Cys405Ter
NM_007254.4:c.1215_1218del MANE Select	NP_009185.2:p.Cys405Ter