Canonical Allele Identifier: CA2675416347

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628544-GGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628546_137628549del , CM000667.2:g.137628546_137628549del	GRCh38
NC_000005.9:g.136964235_136964238del , CM000667.1:g.136964235_136964238del	GRCh37
NC_000005.8:g.136992134_136992137del	NCBI36
NG_032569.1:g.112543_112546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1451-111_1451-108del MANE Select	ENSP00000312397.4:n.1451-111_1451-108del
ENST00000309755.8:c.1451-111_1451-108del	ENSP00000312397.4:n.1451-111_1451-108del
ENST00000447439.6:n.1396_1399del
ENST00000504208.5:c.*335-111_*335-108del	ENSP00000423585.1:n.*335-111_*335-108del
ENST00000506491.5:c.1205-111_1205-108del	ENSP00000424828.1:n.1205-111_1205-108del
ENST00000506873.5:n.974-111_974-108del
ENST00000508657.5:c.1355-111_1355-108del	ENSP00000422099.1:n.1355-111_1355-108del
ENST00000509694.1:n.133_136del
NM_001257194.1:c.1355-111_1355-108del	NP_001244123.1:n.1355-111_1355-108del
NM_001257195.1:c.1205-111_1205-108del	NP_001244124.1:n.1205-111_1205-108del
NM_017415.2:c.1451-111_1451-108del	NP_059111.2:n.1451-111_1451-108del
NM_017415.3:c.1451-111_1451-108del MANE Select	NP_059111.2:n.1451-111_1451-108del
NM_001257195.2:c.1205-111_1205-108del	NP_001244124.1:n.1205-111_1205-108del