Canonical Allele Identifier: CA883145444

Gene: PNKP

Linked Data

• dbSNP Id: rs1163279187
• gnomAD v3: 19-49861551-GGGA-G
• gnomAD v4: 19-49861551-GGGA-G
• MyVariant Identifiers: chr19:g.50364809_50364811del (hg19) ; chr19:g.49861552_49861554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861557_49861559del , CM000681.2:g.49861557_49861559del	GRCh38
NC_000019.9:g.50364814_50364816del , CM000681.1:g.50364814_50364816del	GRCh37
NC_000019.8:g.55056626_55056628del	NCBI36
NG_027717.1:g.11012_11014del
NG_050666.1:g.17714_17716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1387-44_1387-42del MANE Select	ENSP00000323511.2:n.1387-44_1387-42del
ENST00000636840.1:c.59+54_59+56del
ENST00000322344.7:c.1387-44_1387-42del	ENSP00000323511.2:n.1387-44_1387-42del
ENST00000593946.5:c.*1314-44_*1314-42del	ENSP00000468896.1:n.*1314-44_*1314-42del
ENST00000594661.5:n.1888-44_1888-42del
ENST00000595081.5:n.290-44_290-42del
ENST00000596014.5:c.1387-44_1387-42del	ENSP00000472300.1:n.1387-44_1387-42del
ENST00000597965.2:c.94-44_94-42del	ENSP00000471097.2:n.94-44_94-42del
ENST00000599454.5:n.307-44_307-42del
ENST00000600573.5:c.1294-44_1294-42del	ENSP00000469826.1:n.1294-44_1294-42del
ENST00000600910.5:c.1277-44_1277-42del	ENSP00000473137.1:n.1277-44_1277-42del
ENST00000601816.3:n.415_417del
ENST00000625216.2:c.468-44_468-42del	ENSP00000486898.1:n.468-44_468-42del
ENST00000627232.2:c.1307-44_1307-42del	ENSP00000486037.1:n.1307-44_1307-42del
ENST00000631020.2:c.1279-44_1279-42del	ENSP00000486707.1:n.1279-44_1279-42del
NM_007254.3:c.1387-44_1387-42del	NP_009185.2:n.1387-44_1387-42del
NM_007254.4:c.1387-44_1387-42del MANE Select	NP_009185.2:n.1387-44_1387-42del