Canonical Allele Identifier: CA2586460359

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861440-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861440_49861441insTG , CM000681.2:g.49861440_49861441insTG	GRCh38
NC_000019.9:g.50364697_50364698insTG , CM000681.1:g.50364697_50364698insTG	GRCh37
NC_000019.8:g.55056509_55056510insTG	NCBI36
NG_027717.1:g.11125_11126insCA
NG_050666.1:g.17597_17598insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448+8_1448+9insCA MANE Select	ENSP00000323511.2:n.1448+8_1448+9insCA
ENST00000636840.1:c.59+167_59+168insCA
ENST00000640501.1:c.54+8_54+9insCA
ENST00000322344.7:c.1448+8_1448+9insCA	ENSP00000323511.2:n.1448+8_1448+9insCA
ENST00000593946.5:c.*1375+8_*1375+9insCA	ENSP00000468896.1:n.*1375+8_*1375+9insCA
ENST00000594661.5:n.1949+8_1949+9insCA
ENST00000595081.5:n.351+8_351+9insCA
ENST00000596014.5:c.1448+8_1448+9insCA	ENSP00000472300.1:n.1448+8_1448+9insCA
ENST00000597965.2:c.163_164insCA	ENSP00000471097.2:p.Trp55SerfsTer?
ENST00000599454.5:n.368+8_368+9insCA
ENST00000600573.5:c.1355+8_1355+9insCA	ENSP00000469826.1:n.1355+8_1355+9insCA
ENST00000600910.5:c.1338+8_1338+9insCA	ENSP00000473137.1:n.1338+8_1338+9insCA
ENST00000601816.3:n.520+8_520+9insCA
ENST00000625216.2:c.529+8_529+9insCA	ENSP00000486898.1:n.529+8_529+9insCA
ENST00000627232.2:c.1368+8_1368+9insCA	ENSP00000486037.1:n.1368+8_1368+9insCA
ENST00000631020.2:c.1340+8_1340+9insCA	ENSP00000486707.1:n.1340+8_1340+9insCA
NM_007254.3:c.1448+8_1448+9insCA	NP_009185.2:n.1448+8_1448+9insCA
NM_007254.4:c.1448+8_1448+9insCA MANE Select	NP_009185.2:n.1448+8_1448+9insCA