Canonical Allele Identifier: CA16620876
Community Standard Title: NM_007254.4(PNKP):c.1230_1231del (p.Glu410AspfsTer?)
Gene: PNKP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49861841_49861842del , CM000681.2:g.49861841_49861842del GRCh38
NC_000019.9:g.50365098_50365099del , CM000681.1:g.50365098_50365099del GRCh37
NC_000019.8:g.55056910_55056911del NCBI36
NG_027717.1:g.10726_10727del
NG_050666.1:g.17998_17999del

Transcript Alleles

HGVS Amino-acid Change
NM_007254.4:c.1230_1231del MANE Select NP_009185.2:p.Glu410AspfsTer?
ENST00000322344.8:c.1230_1231del MANE Select ENSP00000323511.2:p.Glu410AspfsTer?
NM_007254.3:c.1230_1231del NP_009185.2:p.Glu410AspfsTer?
ENST00000322344.7:c.1230_1231del ENSP00000323511.2:p.Glu410AspfsTer?
ENST00000593706.3:n.826_827del
ENST00000593946.5:c.*1157_*1158del ENSP00000468896.1:n.*1157_*1158del
ENST00000594661.5:n.1731_1732del
ENST00000595081.5:n.57_58del
ENST00000596014.5:c.1230_1231del ENSP00000472300.1:p.Glu410AspfsTer?
ENST00000599454.5:n.74_75del
ENST00000600573.5:c.1137_1138del ENSP00000469826.1:p.Glu379AspfsTer?
ENST00000600910.5:c.1189-145_1189-144del ENSP00000473137.1:n.1189-145_1189-144del
ENST00000601816.3:n.129_130del
ENST00000625216.2:c.311_312del ENSP00000486898.1:n.311_312del
ENST00000627232.2:c.1150_1151del ENSP00000486037.1:n.1150_1151del
ENST00000631020.2:c.1122_1123del ENSP00000486707.1:p.Glu374AspfsTer?
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