Canonical Allele Identifier: CA2586460362

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861456-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861456_49861457insT , CM000681.2:g.49861456_49861457insT	GRCh38
NC_000019.9:g.50364713_50364714insT , CM000681.1:g.50364713_50364714insT	GRCh37
NC_000019.8:g.55056525_55056526insT	NCBI36
NG_027717.1:g.11109_11110insA
NG_050666.1:g.17613_17614insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1440_1441insA MANE Select	ENSP00000323511.2:p.Gly481ArgfsTer13
ENST00000636840.1:c.59+151_59+152insA
ENST00000640501.1:c.46_47insA
ENST00000322344.7:c.1440_1441insA	ENSP00000323511.2:p.Gly481ArgfsTer13
ENST00000593946.5:c.*1367_*1368insA	ENSP00000468896.1:n.*1367_*1368insA
ENST00000594661.5:n.1941_1942insA
ENST00000595081.5:n.343_344insA
ENST00000596014.5:c.1440_1441insA	ENSP00000472300.1:p.Gly481ArgfsTer13
ENST00000597965.2:c.147_148insA	ENSP00000471097.2:p.Gly50ArgfsTer19
ENST00000599454.5:n.360_361insA
ENST00000600573.5:c.1347_1348insA	ENSP00000469826.1:p.Gly450ArgfsTer13
ENST00000600910.5:c.1330_1331insA	ENSP00000473137.1:p.Trp444Ter
ENST00000601816.3:n.512_513insA
ENST00000625216.2:c.521_522insA	ENSP00000486898.1:n.521_522insA
ENST00000627232.2:c.1360_1361insA	ENSP00000486037.1:n.1360_1361insA
ENST00000631020.2:c.1332_1333insA	ENSP00000486707.1:p.Gly445ArgfsTer13
NM_007254.3:c.1440_1441insA	NP_009185.2:p.Gly481ArgfsTer13
NM_007254.4:c.1440_1441insA MANE Select	NP_009185.2:p.Gly481ArgfsTer13