Canonical Allele Identifier: CA2586460507

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861761-GGTCACGCTACCTGGCGCGGCTCGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861765_49861791del , CM000681.2:g.49861765_49861791del	GRCh38
NC_000019.9:g.50365022_50365048del , CM000681.1:g.50365022_50365048del	GRCh37
NC_000019.8:g.55056834_55056860del	NCBI36
NG_027717.1:g.10778_10804del
NG_050666.1:g.17922_17948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1282_1298+10del
ENST00000322344.7:c.1282_1298+10del
ENST00000593946.5:c.*1209_*1225+10del
ENST00000594661.5:n.1783_1799+10del
ENST00000595081.5:n.109_135del
ENST00000596014.5:c.1282_1298+10del
ENST00000599454.5:n.126_152del
ENST00000600573.5:c.1189_1205+10del
ENST00000600910.5:c.1189-93_1189-67del	ENSP00000473137.1:n.1189-93_1189-67del
ENST00000601816.3:n.181_207del
ENST00000625216.2:c.363_379+10del
ENST00000627232.2:c.1202_1218+10del
ENST00000631020.2:c.1174_1190+10del
NM_007254.3:c.1282_1298+10del
NM_007254.4:c.1282_1298+10del