Canonical Allele Identifier: CA2675416319

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628506-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628506_137628507insG , CM000667.2:g.137628506_137628507insG	GRCh38
NC_000005.9:g.136964195_136964196insG , CM000667.1:g.136964195_136964196insG	GRCh37
NC_000005.8:g.136992094_136992095insG	NCBI36
NG_032569.1:g.112584_112585insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1451-70_1451-69insC MANE Select	ENSP00000312397.4:n.1451-70_1451-69insC
ENST00000309755.8:c.1451-70_1451-69insC	ENSP00000312397.4:n.1451-70_1451-69insC
ENST00000447439.6:n.1437_1438insC
ENST00000504208.5:c.*335-70_*335-69insC	ENSP00000423585.1:n.*335-70_*335-69insC
ENST00000506491.5:c.1205-70_1205-69insC	ENSP00000424828.1:n.1205-70_1205-69insC
ENST00000506873.5:n.974-70_974-69insC
ENST00000508657.5:c.1355-70_1355-69insC	ENSP00000422099.1:n.1355-70_1355-69insC
ENST00000509694.1:n.174_175insC
NM_001257194.1:c.1355-70_1355-69insC	NP_001244123.1:n.1355-70_1355-69insC
NM_001257195.1:c.1205-70_1205-69insC	NP_001244124.1:n.1205-70_1205-69insC
NM_017415.2:c.1451-70_1451-69insC	NP_059111.2:n.1451-70_1451-69insC
NM_017415.3:c.1451-70_1451-69insC MANE Select	NP_059111.2:n.1451-70_1451-69insC
NM_001257195.2:c.1205-70_1205-69insC	NP_001244124.1:n.1205-70_1205-69insC