Canonical Allele Identifier: CA633894487

Gene: PNKP

Linked Data

• dbSNP Id: rs1379938392
• gnomAD v2: 19-50364964-G-GGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCA
• gnomAD v4: 19-49861707-G-GGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCA
• MyVariant Identifiers: chr19:g.50364964_50364965insGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCA (hg19) ; chr19:g.49861707_49861708insGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861709_49861743dup , CM000681.2:g.49861709_49861743dup	GRCh38
NC_000019.9:g.50364966_50365000dup , CM000681.1:g.50364966_50365000dup	GRCh37
NC_000019.8:g.55056778_55056812dup	NCBI36
NG_027717.1:g.10824_10858dup
NG_050666.1:g.17866_17900dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1298+30_1299-13dup MANE Select	ENSP00000323511.2:n.1298+30_1299-13dup
ENST00000322344.7:c.1298+30_1299-13dup	ENSP00000323511.2:n.1298+30_1299-13dup
ENST00000593946.5:c.*1225+30_*1226-13dup	ENSP00000468896.1:n.*1225+30_*1226-13dup
ENST00000594661.5:n.1799+30_1800-13dup
ENST00000595081.5:n.155_189dup
ENST00000596014.5:c.1298+30_1299-13dup	ENSP00000472300.1:n.1298+30_1299-13dup
ENST00000597965.2:c.5+30_6-13dup	ENSP00000471097.2:n.5+30_6-13dup
ENST00000599454.5:n.172_206dup
ENST00000600573.5:c.1205+30_1206-13dup	ENSP00000469826.1:n.1205+30_1206-13dup
ENST00000600910.5:c.1189-47_1189-13dup	ENSP00000473137.1:n.1189-47_1189-13dup
ENST00000601816.3:n.227_261dup
ENST00000625216.2:c.379+30_380-13dup	ENSP00000486898.1:n.379+30_380-13dup
ENST00000627232.2:c.1218+30_1219-13dup	ENSP00000486037.1:n.1218+30_1219-13dup
ENST00000631020.2:c.1190+30_1191-13dup	ENSP00000486707.1:n.1190+30_1191-13dup
NM_007254.3:c.1298+30_1299-13dup	NP_009185.2:n.1298+30_1299-13dup
NM_007254.4:c.1298+30_1299-13dup MANE Select	NP_009185.2:n.1298+30_1299-13dup