Canonical Allele Identifier: CA128104342

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 1251897
• ClinVar RCV Id: RCV001650449
• dbSNP Id: rs796957196
• gnomAD v2: 5-136975400-C-CAA
• gnomAD v3: 5-137639711-C-CAA
• gnomAD v4: 5-137639711-C-CAA
• MyVariant Identifiers: chr5:g.136975401_136975402insAA (hg19) ; chr5:g.136975400_136975401insAA (hg19) ; chr5:g.137639712_137639713insAA (hg38) ; chr5:g.137639711_137639712insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639725_137639726dup , CM000667.2:g.137639725_137639726dup	GRCh38
NC_000005.9:g.136975414_136975415dup , CM000667.1:g.136975414_136975415dup	GRCh37
NC_000005.8:g.137003313_137003314dup	NCBI36
NG_032569.1:g.101378_101379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+147_1021+148dup MANE Select	ENSP00000312397.4:n.1021+147_1021+148dup
ENST00000309755.8:c.1021+147_1021+148dup	ENSP00000312397.4:n.1021+147_1021+148dup
ENST00000502381.1:n.608+147_608+148dup
ENST00000504208.5:c.*335-11276_*335-11275dup	ENSP00000423585.1:n.*335-11276_*335-11275dup
ENST00000505853.1:c.901+147_901+148dup	ENSP00000426173.1:n.901+147_901+148dup
ENST00000506491.5:c.775+147_775+148dup	ENSP00000424828.1:n.775+147_775+148dup
ENST00000506873.5:n.646+147_646+148dup
ENST00000508657.5:c.925+147_925+148dup	ENSP00000422099.1:n.925+147_925+148dup
NM_001257194.1:c.925+147_925+148dup	NP_001244123.1:n.925+147_925+148dup
NM_001257195.1:c.775+147_775+148dup	NP_001244124.1:n.775+147_775+148dup
NM_017415.2:c.1021+147_1021+148dup	NP_059111.2:n.1021+147_1021+148dup
NM_017415.3:c.1021+147_1021+148dup MANE Select	NP_059111.2:n.1021+147_1021+148dup
NM_001257195.2:c.775+147_775+148dup	NP_001244124.1:n.775+147_775+148dup