Canonical Allele Identifier: CA633894414

Gene: PNKP

Linked Data

• dbSNP Id: rs1316644891
• gnomAD v2: 19-50364710-A-AGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCC
• gnomAD v4: 19-49861453-A-AGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCC
• MyVariant Identifiers: chr19:g.50364710_50364711insGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCC (hg19) ; chr19:g.49861453_49861454insGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861455_49861497dup , CM000681.2:g.49861455_49861497dup	GRCh38
NC_000019.9:g.50364712_50364754dup , CM000681.1:g.50364712_50364754dup	GRCh37
NC_000019.8:g.55056524_55056566dup	NCBI36
NG_027717.1:g.11070_11112dup
NG_050666.1:g.17612_17654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1401_1443dup MANE Select	ENSP00000323511.2:p.Tyr482GlyfsTer26
ENST00000636840.1:c.59+112_59+154dup
ENST00000640501.1:c.7_49dup
ENST00000322344.7:c.1401_1443dup	ENSP00000323511.2:p.Tyr482GlyfsTer26
ENST00000593946.5:c.*1328_*1370dup	ENSP00000468896.1:n.*1328_*1370dup
ENST00000594661.5:n.1902_1944dup
ENST00000595081.5:n.304_346dup
ENST00000596014.5:c.1401_1443dup	ENSP00000472300.1:p.Tyr482GlyfsTer26
ENST00000597965.2:c.108_150dup	ENSP00000471097.2:p.Tyr51GlyfsTer32
ENST00000599454.5:n.321_363dup
ENST00000600573.5:c.1308_1350dup	ENSP00000469826.1:p.Tyr451GlyfsTer26
ENST00000600910.5:c.1291_1333dup	ENSP00000473137.1:p.Leu445ArgfsTer?
ENST00000601816.3:n.473_515dup
ENST00000625216.2:c.482_524dup	ENSP00000486898.1:n.482_524dup
ENST00000627232.2:c.1321_1363dup	ENSP00000486037.1:n.1321_1363dup
ENST00000631020.2:c.1293_1335dup	ENSP00000486707.1:p.Tyr446GlyfsTer26
NM_007254.3:c.1401_1443dup	NP_009185.2:p.Tyr482GlyfsTer26
NM_007254.4:c.1401_1443dup MANE Select	NP_009185.2:p.Tyr482GlyfsTer26