Canonical Allele Identifier: CA2340621997

Gene: PNKP

Linked Data

• dbSNP Id: rs2074756635

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861447_49861450dup , CM000681.2:g.49861447_49861450dup	GRCh38
NC_000019.9:g.50364704_50364707dup , CM000681.1:g.50364704_50364707dup	GRCh37
NC_000019.8:g.55056516_55056519dup	NCBI36
NG_027717.1:g.11117_11120dup
NG_050666.1:g.17604_17607dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1448_1448+3dup
ENST00000636840.1:c.59+159_59+162dup
ENST00000640501.1:c.54_54+3dup
ENST00000322344.7:c.1448_1448+3dup
ENST00000593946.5:c.*1375_*1375+3dup
ENST00000594661.5:n.1949_1949+3dup
ENST00000595081.5:n.351_351+3dup
ENST00000596014.5:c.1448_1448+3dup
ENST00000597965.2:c.155_158dup	ENSP00000471097.2:p.Tyr53Ter
ENST00000599454.5:n.368_368+3dup
ENST00000600573.5:c.1355_1355+3dup
ENST00000600910.5:c.1338_1338+3dup
ENST00000601816.3:n.520_520+3dup
ENST00000625216.2:c.529_529+3dup
ENST00000627232.2:c.1368_1368+3dup
ENST00000631020.2:c.1340_1340+3dup
NM_007254.3:c.1448_1448+3dup
NM_007254.4:c.1448_1448+3dup