Canonical Allele Identifier: CA2580097599

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861769_49861778dup , CM000681.2:g.49861769_49861778dup	GRCh38
NC_000019.9:g.50365026_50365035dup , CM000681.1:g.50365026_50365035dup	GRCh37
NC_000019.8:g.55056838_55056847dup	NCBI36
NG_027717.1:g.10791_10800dup
NG_050666.1:g.17926_17935dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007254.3:c.1295_1298+6dup
NM_007254.4:c.1295_1298+6dup
ENST00000322344.7:c.1295_1298+6dup
ENST00000322344.8:c.1295_1298+6dup
ENST00000593946.5:c.*1222_*1225+6dup
ENST00000594661.5:n.1796_1799+6dup
ENST00000595081.5:n.122_131dup
ENST00000596014.5:c.1295_1298+6dup
ENST00000599454.5:n.139_148dup
ENST00000600573.5:c.1202_1205+6dup
ENST00000600910.5:c.1189-80_1189-71dup	ENSP00000473137.1:n.1189-80_1189-71dup
ENST00000601816.3:n.194_203dup
ENST00000625216.2:c.376_379+6dup
ENST00000627232.2:c.1215_1218+6dup
ENST00000631020.2:c.1187_1190+6dup