Canonical Allele Identifier: CA5388722

Gene: KLF6

Linked Data

• dbSNP Id: rs768065804
• ExAC: 10:3823787 TGGCGCCCACCAGCGGCCGCCCTCC / T
• gnomAD v2: 10-3823787-TGGCGCCCACCAGCGGCCGCCCTCC-T
• gnomAD v4: 10-3781595-TGGCGCCCACCAGCGGCCGCCCTCC-T
• MyVariant Identifiers: chr10:g.3823788_3823811del (hg19) ; chr10:g.3781596_3781619del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781598_3781621del , CM000672.2:g.3781598_3781621del	GRCh38
NC_000010.10:g.3823790_3823813del , CM000672.1:g.3823790_3823813del	GRCh37
NC_000010.9:g.3813790_3813813del	NCBI36
NG_012277.1:g.8663_8686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000497571.6:c.676+22_676+45del MANE Select	ENSP00000419923.1:n.676+22_676+45del
ENST00000173785.4:n.257+176_257+199del
ENST00000469435.1:c.698_721del	ENSP00000419079.1:p.Arg233_Arg240del
ENST00000497571.5:c.676+22_676+45del	ENSP00000419923.1:n.676+22_676+45del
ENST00000542957.1:c.676+22_676+45del	ENSP00000445301.1:n.676+22_676+45del
NM_001160124.1:c.550+148_550+171del	NP_001153596.1:n.550+148_550+171del
NM_001160125.1:c.676+22_676+45del	NP_001153597.1:n.676+22_676+45del
NM_001300.5:c.676+22_676+45del	NP_001291.3:n.676+22_676+45del
NR_027653.1:n.789+176_789+199del
NM_001300.6:c.676+22_676+45del MANE Select	NP_001291.3:n.676+22_676+45del
NM_001160124.2:c.550+148_550+171del	NP_001153596.1:n.550+148_550+171del
NR_027653.2:n.717+176_717+199del
NM_001160125.2:c.676+22_676+45del	NP_001153597.1:n.676+22_676+45del