Canonical Allele Identifier: CA530849078

Gene: KLF11

Linked Data

• dbSNP Id: rs1353542936
• gnomAD v2: 2-10188607-CTG-C
• gnomAD v3: 2-10048480-CTG-C
• gnomAD v4: 2-10048480-CTG-C
• MyVariant Identifiers: chr2:g.10188608_10188609del (hg19) ; chr2:g.10048481_10048482del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10048484_10048485del , CM000664.2:g.10048484_10048485del	GRCh38
NC_000002.11:g.10188611_10188612del , CM000664.1:g.10188611_10188612del	GRCh37
NC_000002.10:g.10106062_10106063del	NCBI36
NG_017199.1:g.9930_9931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305883.6:c.1147_1148del MANE Select	ENSP00000307023.1:p.Val383ProfsTer29
ENST00000305883.5:c.1147_1148del	ENSP00000307023.1:p.Val383ProfsTer29
ENST00000535335.1:c.1096_1097del	ENSP00000442722.1:p.Val366ProfsTer29
ENST00000540845.5:c.1096_1097del	ENSP00000444690.1:p.Val366ProfsTer29
NM_001177716.1:c.1096_1097del	NP_001171187.1:p.Val366ProfsTer29
NM_001177718.1:c.1096_1097del	NP_001171189.1:p.Val366ProfsTer29
NM_003597.4:c.1147_1148del	NP_003588.1:p.Val383ProfsTer29
XM_005246179.3:c.1096_1097del	XP_005246236.1:p.Val366ProfsTer29
NM_003597.5:c.1147_1148del MANE Select	NP_003588.1:p.Val383ProfsTer29
NM_001177716.2:c.1096_1097del	NP_001171187.1:p.Val366ProfsTer29
NM_001177718.2:c.1096_1097del	NP_001171189.1:p.Val366ProfsTer29