Canonical Allele Identifier: CA5388775

Gene: KLF6

Linked Data

• dbSNP Id: rs750826814
• ExAC: 10:3824020 A / ACCC
• gnomAD v2: 10-3824020-A-ACCC
• gnomAD v4: 10-3781828-A-ACCC
• MyVariant Identifiers: chr10:g.3824020_3824021insCCC (hg19) ; chr10:g.3781828_3781829insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781830_3781832dup , CM000672.2:g.3781830_3781832dup	GRCh38
NC_000010.10:g.3824022_3824024dup , CM000672.1:g.3824022_3824024dup	GRCh37
NC_000010.9:g.3814022_3814024dup	NCBI36
NG_012277.1:g.8451_8453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000497571.6:c.486_488dup MANE Select	ENSP00000419923.1:p.Gly163_Cys164insGly
ENST00000173785.4:n.221_223dup
ENST00000380946.3:n.721_723dup
ENST00000469435.1:c.486_488dup	ENSP00000419079.1:p.Gly163_Cys164insGly
ENST00000497571.5:c.486_488dup	ENSP00000419923.1:p.Gly163_Cys164insGly
ENST00000542957.1:c.486_488dup	ENSP00000445301.1:p.Gly163_Cys164insGly
NM_001160124.1:c.486_488dup	NP_001153596.1:p.Gly163_Cys164insGly
NM_001160125.1:c.486_488dup	NP_001153597.1:p.Gly163_Cys164insGly
NM_001300.5:c.486_488dup	NP_001291.3:p.Gly163_Cys164insGly
NR_027653.1:n.753_755dup
NM_001300.6:c.486_488dup MANE Select	NP_001291.3:p.Gly163_Cys164insGly
NM_001160124.2:c.486_488dup	NP_001153596.1:p.Gly163_Cys164insGly
NR_027653.2:n.681_683dup
NM_001160125.2:c.486_488dup	NP_001153597.1:p.Gly163_Cys164insGly