Canonical Allele Identifier: CA996725308

Gene: PNKP

Linked Data

• dbSNP Id: rs2074778747
• gnomAD v3: 19-49862301-C-CGCGTGAGAT
• gnomAD v4: 19-49862301-C-CGCGTGAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862304_49862312dup , CM000681.2:g.49862304_49862312dup	GRCh38
NC_000019.9:g.50365561_50365569dup , CM000681.1:g.50365561_50365569dup	GRCh37
NC_000019.8:g.55057373_55057381dup	NCBI36
NG_027717.1:g.10256_10264dup
NG_050666.1:g.18461_18469dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1030-29_1030-21dup MANE Select	ENSP00000323511.2:n.1030-29_1030-21dup
ENST00000322344.7:c.1030-29_1030-21dup	ENSP00000323511.2:n.1030-29_1030-21dup
ENST00000593706.3:n.385-29_385-21dup
ENST00000593946.5:c.*957-29_*957-21dup	ENSP00000468896.1:n.*957-29_*957-21dup
ENST00000594661.5:n.1531-29_1531-21dup
ENST00000596014.5:c.1030-29_1030-21dup	ENSP00000472300.1:n.1030-29_1030-21dup
ENST00000600573.5:c.937-29_937-21dup	ENSP00000469826.1:n.937-29_937-21dup
ENST00000600910.5:c.1030-29_1030-21dup	ENSP00000473137.1:n.1030-29_1030-21dup
ENST00000625216.2:c.207+61_207+69dup	ENSP00000486898.1:n.207+61_207+69dup
ENST00000627232.2:c.950-29_950-21dup	ENSP00000486037.1:n.950-29_950-21dup
ENST00000627317.1:c.651-29_651-21dup
ENST00000629179.1:n.801-29_801-21dup
ENST00000631020.2:c.922-29_922-21dup	ENSP00000486707.1:n.922-29_922-21dup
NM_007254.3:c.1030-29_1030-21dup	NP_009185.2:n.1030-29_1030-21dup
NM_007254.4:c.1030-29_1030-21dup MANE Select	NP_009185.2:n.1030-29_1030-21dup