Canonical Allele Identifier: CA996725026

Gene: PNKP

Linked Data

• dbSNP Id: rs2074771778
• gnomAD v3: 19-49861931-A-AGACCCCGAGCGGGGAC
• gnomAD v4: 19-49861931-A-AGACCCCGAGCGGGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861933_49861948dup , CM000681.2:g.49861933_49861948dup	GRCh38
NC_000019.9:g.50365190_50365205dup , CM000681.1:g.50365190_50365205dup	GRCh37
NC_000019.8:g.55057002_55057017dup	NCBI36
NG_027717.1:g.10619_10634dup
NG_050666.1:g.18090_18105dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1189-66_1189-51dup MANE Select	ENSP00000323511.2:n.1189-66_1189-51dup
ENST00000322344.7:c.1189-66_1189-51dup	ENSP00000323511.2:n.1189-66_1189-51dup
ENST00000593706.3:n.719_734dup
ENST00000593946.5:c.*1116-66_*1116-51dup	ENSP00000468896.1:n.*1116-66_*1116-51dup
ENST00000594661.5:n.1690-66_1690-51dup
ENST00000596014.5:c.1189-66_1189-51dup	ENSP00000472300.1:n.1189-66_1189-51dup
ENST00000599454.5:n.33-66_33-51dup
ENST00000600573.5:c.1096-66_1096-51dup	ENSP00000469826.1:n.1096-66_1096-51dup
ENST00000600910.5:c.1188+97_1188+112dup	ENSP00000473137.1:n.1188+97_1188+112dup
ENST00000601816.3:n.88-66_88-51dup
ENST00000625216.2:c.270-66_270-51dup	ENSP00000486898.1:n.270-66_270-51dup
ENST00000627232.2:c.1109-66_1109-51dup	ENSP00000486037.1:n.1109-66_1109-51dup
ENST00000631020.2:c.1081-66_1081-51dup	ENSP00000486707.1:n.1081-66_1081-51dup
NM_007254.3:c.1189-66_1189-51dup	NP_009185.2:n.1189-66_1189-51dup
NM_007254.4:c.1189-66_1189-51dup MANE Select	NP_009185.2:n.1189-66_1189-51dup