Canonical Allele Identifier: CA530848984

Gene: KLF11

Linked Data

• dbSNP Id: rs1558348292
• gnomAD v2: 2-10188315-CT-C
• gnomAD v4: 2-10048188-CT-C
• MyVariant Identifiers: chr2:g.10188316del (hg19) ; chr2:g.10048189del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10048189del , CM000664.2:g.10048189del	GRCh38
NC_000002.11:g.10188316del , CM000664.1:g.10188316del	GRCh37
NC_000002.10:g.10105767del	NCBI36
NG_017199.1:g.9635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305883.6:c.852del MANE Select	ENSP00000307023.1:p.Val285SerfsTer5
ENST00000305883.5:c.852del	ENSP00000307023.1:p.Val285SerfsTer5
ENST00000535335.1:c.801del	ENSP00000442722.1:p.Val268SerfsTer5
ENST00000540845.5:c.801del	ENSP00000444690.1:p.Val268SerfsTer5
NM_001177716.1:c.801del	NP_001171187.1:p.Val268SerfsTer5
NM_001177718.1:c.801del	NP_001171189.1:p.Val268SerfsTer5
NM_003597.4:c.852del	NP_003588.1:p.Val285SerfsTer5
XM_005246179.3:c.801del	XP_005246236.1:p.Val268SerfsTer5
NM_003597.5:c.852del MANE Select	NP_003588.1:p.Val285SerfsTer5
NM_001177716.2:c.801del	NP_001171187.1:p.Val268SerfsTer5
NM_001177718.2:c.801del	NP_001171189.1:p.Val268SerfsTer5