Canonical Allele Identifier: CA9586462

Gene: PNKP

Linked Data

• dbSNP Id: rs771791338
• ExAC: 19:50364974 G / GCACA
• gnomAD v2: 19-50364974-G-GCACA
• gnomAD v4: 19-49861717-G-GCACA
• MyVariant Identifiers: chr19:g.50364974_50364975insCACA (hg19) ; chr19:g.50364975_50364983delinsCACATGCAGGCCC (hg19) ; chr19:g.49861717_49861718insCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861717_49861718insCACA , CM000681.2:g.49861717_49861718insCACA	GRCh38
NC_000019.9:g.50364974_50364975insCACA , CM000681.1:g.50364974_50364975insCACA	GRCh37
NC_000019.8:g.55056786_55056787insCACA	NCBI36
NG_027717.1:g.10848_10849insTGTG
NG_050666.1:g.17874_17875insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1299-23_1299-22insTGTG MANE Select	ENSP00000323511.2:n.1299-23_1299-22insTGTG
ENST00000322344.7:c.1299-23_1299-22insTGTG	ENSP00000323511.2:n.1299-23_1299-22insTGTG
ENST00000593946.5:c.*1226-23_*1226-22insTGTG	ENSP00000468896.1:n.*1226-23_*1226-22insTGTG
ENST00000594661.5:n.1800-23_1800-22insTGTG
ENST00000595081.5:n.179_180insTGTG
ENST00000596014.5:c.1299-23_1299-22insTGTG	ENSP00000472300.1:n.1299-23_1299-22insTGTG
ENST00000597965.2:c.6-23_6-22insTGTG	ENSP00000471097.2:n.6-23_6-22insTGTG
ENST00000599454.5:n.196_197insTGTG
ENST00000600573.5:c.1206-23_1206-22insTGTG	ENSP00000469826.1:n.1206-23_1206-22insTGTG
ENST00000600910.5:c.1189-23_1189-22insTGTG	ENSP00000473137.1:n.1189-23_1189-22insTGTG
ENST00000601816.3:n.251_252insTGTG
ENST00000625216.2:c.380-23_380-22insTGTG	ENSP00000486898.1:n.380-23_380-22insTGTG
ENST00000627232.2:c.1219-23_1219-22insTGTG	ENSP00000486037.1:n.1219-23_1219-22insTGTG
ENST00000631020.2:c.1191-23_1191-22insTGTG	ENSP00000486707.1:n.1191-23_1191-22insTGTG
NM_007254.3:c.1299-23_1299-22insTGTG	NP_009185.2:n.1299-23_1299-22insTGTG
NM_007254.4:c.1299-23_1299-22insTGTG MANE Select	NP_009185.2:n.1299-23_1299-22insTGTG