Canonical Allele Identifier: CA9586558
Gene: PNKP HGNC NCBI

Linked Data

dbSNP Id: rs751871245
ExAC: 19:50365294 GTCATACCCTGT / G
gnomAD v2: 19-50365294-GTCATACCCTGT-G
gnomAD v3: 19-49862037-GTCATACCCTGT-G
gnomAD v4: 19-49862037-GTCATACCCTGT-G
MyVariant Identifiers: chr19:g.50365295_50365305del (hg19) chr19:g.49862038_49862048del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49862041_49862051del , CM000681.2:g.49862041_49862051del GRCh38
NC_000019.9:g.50365298_50365308del , CM000681.1:g.50365298_50365308del GRCh37
NC_000019.8:g.55057110_55057120del NCBI36
NG_027717.1:g.10518_10528del
NG_050666.1:g.18198_18208del

Transcript Alleles

HGVS Amino-acid change
ENST00000322344.8:c.1184_1188+6del
ENST00000322344.7:c.1184_1188+6del
ENST00000593706.3:n.618_628del
ENST00000593946.5:c.*1111_*1115+6del
ENST00000594661.5:n.1685_1689+6del
ENST00000596014.5:c.1184_1188+6del
ENST00000599454.5:n.28_32+6del
ENST00000600573.5:c.1091_1095+6del
ENST00000600910.5:c.1184_1188+6del
ENST00000601816.3:n.83_87+6del
ENST00000625216.2:c.265_269+6del
ENST00000627232.2:c.1104_1108+6del
ENST00000631020.2:c.1076_1080+6del
NM_007254.3:c.1184_1188+6del
NM_007254.4:c.1184_1188+6del
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