Canonical Allele Identifier: CA9586349

Gene: PNKP

Linked Data

• dbSNP Id: rs759984042
• ExAC: 19:50364644 AG / A
• gnomAD v2: 19-50364644-AG-A
• gnomAD v4: 19-49861387-AG-A
• MyVariant Identifiers: chr19:g.50364645del (hg19) ; chr19:g.49861388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861390del , CM000681.2:g.49861390del	GRCh38
NC_000019.9:g.50364647del , CM000681.1:g.50364647del	GRCh37
NC_000019.8:g.55056459del	NCBI36
NG_027717.1:g.11178del
NG_050666.1:g.17547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-23del MANE Select	ENSP00000323511.2:n.1449-23del
ENST00000636840.1:c.59+220del
ENST00000640501.1:c.55-27del
ENST00000322344.7:c.1449-23del	ENSP00000323511.2:n.1449-23del
ENST00000593946.5:c.*1376-23del	ENSP00000468896.1:n.*1376-23del
ENST00000594661.5:n.1950-23del
ENST00000595081.5:n.352-23del
ENST00000596014.5:c.1449-23del	ENSP00000472300.1:n.1449-23del
ENST00000597965.2:c.216del	ENSP00000471097.2:n.216del
ENST00000599454.5:n.369-23del
ENST00000600573.5:c.1356-23del	ENSP00000469826.1:n.1356-23del
ENST00000600910.5:c.1339-23del	ENSP00000473137.1:n.1339-23del
ENST00000601816.3:n.521-23del
ENST00000625216.2:c.530-23del	ENSP00000486898.1:n.530-23del
ENST00000627232.2:c.1369-23del	ENSP00000486037.1:n.1369-23del
ENST00000631020.2:c.1341-23del	ENSP00000486707.1:n.1341-23del
NM_007254.3:c.1449-23del	NP_009185.2:n.1449-23del
NM_007254.4:c.1449-23del MANE Select	NP_009185.2:n.1449-23del