Canonical Allele Identifier: CA632056317

Gene: KEAP1

Linked Data

• dbSNP Id: rs1417183826
• gnomAD v2: 19-10600444-GACGATTGAGGACAGCC-G
• gnomAD v3: 19-10489768-GACGATTGAGGACAGCC-G
• gnomAD v4: 19-10489768-GACGATTGAGGACAGCC-G
• MyVariant Identifiers: chr19:g.10600445_10600460del (hg19) ; chr19:g.10489769_10489784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489772_10489787del , CM000681.2:g.10489772_10489787del	GRCh38
NC_000019.9:g.10600448_10600463del , CM000681.1:g.10600448_10600463del	GRCh37
NC_000019.8:g.10461448_10461463del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000171111.10:c.1395_1410del MANE Select	ENSP00000171111.4:p.Ala466SerfsTer29
ENST00000171111.9:c.1395_1410del	ENSP00000171111.4:p.Ala466SerfsTer29
ENST00000393623.6:c.1395_1410del	ENSP00000377245.1:p.Ala466SerfsTer29
ENST00000590593.1:c.305-416_305-401del
ENST00000592478.5:c.214_229del
NM_012289.3:c.1395_1410del	NP_036421.2:p.Ala466SerfsTer29
NM_203500.1:c.1395_1410del	NP_987096.1:p.Ala466SerfsTer29
XM_005260173.1:c.1395_1410del	XP_005260230.1:p.Ala466SerfsTer29
XM_005260174.1:c.1395_1410del	XP_005260231.1:p.Ala466SerfsTer29
XM_011528452.1:c.1395_1410del	XP_011526754.1:p.Ala466SerfsTer29
NM_203500.2:c.1395_1410del MANE Select	NP_987096.1:p.Ala466SerfsTer29
NM_012289.4:c.1395_1410del	NP_036421.2:p.Ala466SerfsTer29