Canonical Allele Identifier: CA2582389803

Gene: KEAP1

Linked Data

• gnomAD v4: 19-10489748-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489754dup , CM000681.2:g.10489754dup	GRCh38
NC_000019.9:g.10600430dup , CM000681.1:g.10600430dup	GRCh37
NC_000019.8:g.10461430dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000171111.10:c.1430dup MANE Select	ENSP00000171111.4:p.Phe478LeufsTer2
ENST00000171111.9:c.1430dup	ENSP00000171111.4:p.Phe478LeufsTer2
ENST00000393623.6:c.1430dup	ENSP00000377245.1:p.Phe478LeufsTer2
ENST00000590593.1:c.305-381dup
ENST00000592478.5:c.249dup
NM_012289.3:c.1430dup	NP_036421.2:p.Phe478LeufsTer2
NM_203500.1:c.1430dup	NP_987096.1:p.Phe478LeufsTer2
XM_005260173.1:c.1430dup	XP_005260230.1:p.Phe478LeufsTer2
XM_005260174.1:c.1430dup	XP_005260231.1:p.Phe478LeufsTer2
XM_011528452.1:c.1430dup	XP_011526754.1:p.Phe478LeufsTer2
NM_203500.2:c.1430dup MANE Select	NP_987096.1:p.Phe478LeufsTer2
NM_012289.4:c.1430dup	NP_036421.2:p.Phe478LeufsTer2