Canonical Allele Identifier: CA2586460445

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861675-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861677_49861678dup , CM000681.2:g.49861677_49861678dup	GRCh38
NC_000019.9:g.50364934_50364935dup , CM000681.1:g.50364934_50364935dup	GRCh37
NC_000019.8:g.55056746_55056747dup	NCBI36
NG_027717.1:g.10889_10890dup
NG_050666.1:g.17834_17835dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1317_1318dup MANE Select	ENSP00000323511.2:p.Ala440GlufsTer28
ENST00000322344.7:c.1317_1318dup	ENSP00000323511.2:p.Ala440GlufsTer28
ENST00000593946.5:c.*1244_*1245dup	ENSP00000468896.1:n.*1244_*1245dup
ENST00000594661.5:n.1818_1819dup
ENST00000595081.5:n.220_221dup
ENST00000596014.5:c.1317_1318dup	ENSP00000472300.1:p.Ala440GlufsTer28
ENST00000597965.2:c.24_25dup	ENSP00000471097.2:p.Ala9GlufsTer28
ENST00000599454.5:n.237_238dup
ENST00000600573.5:c.1224_1225dup	ENSP00000469826.1:p.Ala409GlufsTer28
ENST00000600910.5:c.1207_1208dup	ENSP00000473137.1:p.Ser403ArgfsTer?
ENST00000601816.3:n.292_293dup
ENST00000625216.2:c.398_399dup	ENSP00000486898.1:n.398_399dup
ENST00000627232.2:c.1237_1238dup	ENSP00000486037.1:n.1237_1238dup
ENST00000631020.2:c.1209_1210dup	ENSP00000486707.1:p.Ala404GlufsTer28
NM_007254.3:c.1317_1318dup	NP_009185.2:p.Ala440GlufsTer28
NM_007254.4:c.1317_1318dup MANE Select	NP_009185.2:p.Ala440GlufsTer28