Canonical Allele Identifier: CA2675416355

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628550-CCATTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628551_137628555del , CM000667.2:g.137628551_137628555del	GRCh38
NC_000005.9:g.136964240_136964244del , CM000667.1:g.136964240_136964244del	GRCh37
NC_000005.8:g.136992139_136992143del	NCBI36
NG_032569.1:g.112536_112540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1451-118_1451-114del MANE Select	ENSP00000312397.4:n.1451-118_1451-114del
ENST00000309755.8:c.1451-118_1451-114del	ENSP00000312397.4:n.1451-118_1451-114del
ENST00000447439.6:n.1389_1393del
ENST00000504208.5:c.*335-118_*335-114del	ENSP00000423585.1:n.*335-118_*335-114del
ENST00000506491.5:c.1205-118_1205-114del	ENSP00000424828.1:n.1205-118_1205-114del
ENST00000506873.5:n.974-118_974-114del
ENST00000508657.5:c.1355-118_1355-114del	ENSP00000422099.1:n.1355-118_1355-114del
ENST00000509694.1:n.126_130del
NM_001257194.1:c.1355-118_1355-114del	NP_001244123.1:n.1355-118_1355-114del
NM_001257195.1:c.1205-118_1205-114del	NP_001244124.1:n.1205-118_1205-114del
NM_017415.2:c.1451-118_1451-114del	NP_059111.2:n.1451-118_1451-114del
NM_017415.3:c.1451-118_1451-114del MANE Select	NP_059111.2:n.1451-118_1451-114del
NM_001257195.2:c.1205-118_1205-114del	NP_001244124.1:n.1205-118_1205-114del