Canonical Allele Identifier: CA228977

Gene: KLF1

Linked Data

• ClinVar Variation Id: 100799
• ClinVar RCV Id: RCV000087157 ; RCV000990155
• dbSNP Id: rs483352838
• gnomAD v2: 19-12996518-C-CGGCGCCG
• gnomAD v3: 19-12885704-C-CGGCGCCG
• gnomAD v4: 19-12885704-C-CGGCGCCG
• MyVariant Identifiers: chr19:g.12996519_12996525dupGGCGCCG (hg19) ; chr19:g.12996518_12996519insGGCGCCG (hg19) ; chr19:g.12885705_12885711dupGGCGCCG (hg38) ; chr19:g.12885704_12885705insGGCGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12885708_12885714dup , CM000681.2:g.12885708_12885714dup	GRCh38
NC_000019.9:g.12996522_12996528dup , CM000681.1:g.12996522_12996528dup	GRCh37
NC_000019.8:g.12857522_12857528dup	NCBI36
NG_013087.1:g.6493_6499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.519_525dup MANE Select	ENSP00000264834.3:p.Gly176ArgfsTer?
ENST00000264834.4:c.519_525dup	ENSP00000264834.3:p.Gly176ArgfsTer?
NM_006563.3:c.519_525dup	NP_006554.1:p.Gly176ArgfsTer?
XM_011527642.1:c.405_411dup	XP_011525944.1:p.Gly138ArgfsTer?
NM_006563.4:c.519_525dup	NP_006554.1:p.Gly176ArgfsTer?
XM_011527642.2:c.405_411dup	XP_011525944.1:p.Gly138ArgfsTer?
NM_006563.5:c.519_525dup MANE Select	NP_006554.1:p.Gly176ArgfsTer?