Canonical Allele Identifier: CA2586460367

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861496-C-CGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861497_49861500dup , CM000681.2:g.49861497_49861500dup	GRCh38
NC_000019.9:g.50364754_50364757dup , CM000681.1:g.50364754_50364757dup	GRCh37
NC_000019.8:g.55056566_55056569dup	NCBI36
NG_027717.1:g.11066_11069dup
NG_050666.1:g.17654_17657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1397_1400dup MANE Select	ENSP00000323511.2:p.Ser469GlyfsTer26
ENST00000636840.1:c.59+108_59+111dup
ENST00000640501.1:c.3_6dup
ENST00000322344.7:c.1397_1400dup	ENSP00000323511.2:p.Ser469GlyfsTer26
ENST00000593946.5:c.*1324_*1327dup	ENSP00000468896.1:n.*1324_*1327dup
ENST00000594661.5:n.1898_1901dup
ENST00000595081.5:n.300_303dup
ENST00000596014.5:c.1397_1400dup	ENSP00000472300.1:p.Ser469GlyfsTer26
ENST00000597965.2:c.104_107dup	ENSP00000471097.2:p.Ser38GlyfsTer?
ENST00000599454.5:n.317_320dup
ENST00000600573.5:c.1304_1307dup	ENSP00000469826.1:p.Ser438GlyfsTer26
ENST00000600910.5:c.1287_1290dup	ENSP00000473137.1:p.Gly431Ter
ENST00000601816.3:n.469_472dup
ENST00000625216.2:c.478_481dup	ENSP00000486898.1:n.478_481dup
ENST00000627232.2:c.1317_1320dup	ENSP00000486037.1:n.1317_1320dup
ENST00000631020.2:c.1289_1292dup	ENSP00000486707.1:p.Ser433GlyfsTer26
NM_007254.3:c.1397_1400dup	NP_009185.2:p.Ser469GlyfsTer26
NM_007254.4:c.1397_1400dup MANE Select	NP_009185.2:p.Ser469GlyfsTer26