Canonical Allele Identifier: CA9586380

Gene: PNKP

Linked Data

• dbSNP Id: rs761518647
• ExAC: 19:50364737 GGAT / G
• gnomAD v2: 19-50364737-GGAT-G
• gnomAD v4: 19-49861480-GGAT-G
• MyVariant Identifiers: chr19:g.50364738_50364740del (hg19) ; chr19:g.49861481_49861483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861481_49861483del , CM000681.2:g.49861481_49861483del	GRCh38
NC_000019.9:g.50364738_50364740del , CM000681.1:g.50364738_50364740del	GRCh37
NC_000019.8:g.55056550_55056552del	NCBI36
NG_027717.1:g.11083_11085del
NG_050666.1:g.17638_17640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1414_1416del MANE Select	ENSP00000323511.2:p.Ile472del
ENST00000636840.1:c.59+125_59+127del
ENST00000640501.1:c.20_22del
ENST00000322344.7:c.1414_1416del	ENSP00000323511.2:p.Ile472del
ENST00000593946.5:c.*1341_*1343del	ENSP00000468896.1:n.*1341_*1343del
ENST00000594661.5:n.1915_1917del
ENST00000595081.5:n.317_319del
ENST00000596014.5:c.1414_1416del	ENSP00000472300.1:p.Ile472del
ENST00000597965.2:c.121_123del	ENSP00000471097.2:p.Ile41del
ENST00000599454.5:n.334_336del
ENST00000600573.5:c.1321_1323del	ENSP00000469826.1:p.Ile441del
ENST00000600910.5:c.1304_1306del	ENSP00000473137.1:p.Tyr435_Pro436delinsSer
ENST00000601816.3:n.486_488del
ENST00000625216.2:c.495_497del	ENSP00000486898.1:n.495_497del
ENST00000627232.2:c.1334_1336del	ENSP00000486037.1:n.1334_1336del
ENST00000631020.2:c.1306_1308del	ENSP00000486707.1:p.Ile436del
NM_007254.3:c.1414_1416del	NP_009185.2:p.Ile472del
NM_007254.4:c.1414_1416del MANE Select	NP_009185.2:p.Ile472del