Canonical Allele Identifier: CA9586346

Gene: PNKP

Linked Data

• ClinVar Variation Id: 2979734
• ClinVar RCV Id: RCV003834844
• dbSNP Id: rs777236488
• ExAC: 19:50364627 CAGT / C
• gnomAD v2: 19-50364627-CAGT-C
• gnomAD v3: 19-49861370-CAGT-C
• gnomAD v4: 19-49861370-CAGT-C
• MyVariant Identifiers: chr19:g.50364628_50364630del (hg19) ; chr19:g.49861371_49861373del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861371_49861373del , CM000681.2:g.49861371_49861373del	GRCh38
NC_000019.9:g.50364628_50364630del , CM000681.1:g.50364628_50364630del	GRCh37
NC_000019.8:g.55056440_55056442del	NCBI36
NG_027717.1:g.11193_11195del
NG_050666.1:g.17528_17530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-8_1449-6del MANE Select	ENSP00000323511.2:n.1449-8_1449-6del
ENST00000636840.1:c.59+235_59+237del
ENST00000640501.1:c.55-12_55-10del
ENST00000322344.7:c.1449-8_1449-6del	ENSP00000323511.2:n.1449-8_1449-6del
ENST00000593946.5:c.*1376-8_*1376-6del	ENSP00000468896.1:n.*1376-8_*1376-6del
ENST00000594661.5:n.1950-8_1950-6del
ENST00000595081.5:n.352-8_352-6del
ENST00000596014.5:c.1449-8_1449-6del	ENSP00000472300.1:n.1449-8_1449-6del
ENST00000597965.2:c.231_233del	ENSP00000471097.2:n.231_233del
ENST00000599454.5:n.369-8_369-6del
ENST00000600573.5:c.1356-8_1356-6del	ENSP00000469826.1:n.1356-8_1356-6del
ENST00000600910.5:c.1339-8_1339-6del	ENSP00000473137.1:n.1339-8_1339-6del
ENST00000601816.3:n.521-8_521-6del
ENST00000625216.2:c.530-8_530-6del	ENSP00000486898.1:n.530-8_530-6del
ENST00000627232.2:c.1369-8_1369-6del	ENSP00000486037.1:n.1369-8_1369-6del
ENST00000631020.2:c.1341-8_1341-6del	ENSP00000486707.1:n.1341-8_1341-6del
NM_007254.3:c.1449-8_1449-6del	NP_009185.2:n.1449-8_1449-6del
NM_007254.4:c.1449-8_1449-6del MANE Select	NP_009185.2:n.1449-8_1449-6del