Canonical Allele Identifier: CA883145024

Gene: PNKP

Linked Data

• MyVariant Identifiers: chr19:g.50364616_50364622del (hg19) ; chr19:g.49861359_49861365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861362_49861368del , CM000681.2:g.49861362_49861368del	GRCh38
NC_000019.9:g.50364619_50364625del , CM000681.1:g.50364619_50364625del	GRCh37
NC_000019.8:g.55056431_55056437del	NCBI36
NG_027717.1:g.11201_11207del
NG_050666.1:g.17519_17525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449_1455del
ENST00000636840.1:c.59+243_59+249del
ENST00000640501.1:c.55-4_57del
ENST00000322344.7:c.1449_1455del
ENST00000593946.5:c.*1376_*1382del
ENST00000594661.5:n.1950_1956del
ENST00000595081.5:n.352_358del
ENST00000596014.5:c.1449_1455del
ENST00000597965.2:c.239_245del	ENSP00000471097.2:n.239_245del
ENST00000599454.5:n.369_375del
ENST00000600573.5:c.1356_1362del
ENST00000600910.5:c.1339_1345del
ENST00000601816.3:n.521_527del
ENST00000625216.2:c.530_536del
ENST00000627232.2:c.1369_1375del
ENST00000631020.2:c.1341_1347del
NM_007254.3:c.1449_1455del
NM_007254.4:c.1449_1455del