Canonical Allele Identifier: CA2578414160
Gene: KLHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639779del , CM000667.2:g.137639779del GRCh38
NC_000005.9:g.136975468del , CM000667.1:g.136975468del GRCh37
NC_000005.8:g.137003367del NCBI36
NG_032569.1:g.101314del

Transcript Alleles

HGVS Amino-acid change
ENST00000309755.9:c.1021+83del MANE Select ENSP00000312397.4:n.1021+83del
ENST00000309755.8:c.1021+83del ENSP00000312397.4:n.1021+83del
ENST00000502381.1:n.608+83del
ENST00000504208.5:c.*335-11340del ENSP00000423585.1:n.*335-11340del
ENST00000505853.1:c.901+83del ENSP00000426173.1:n.901+83del
ENST00000506491.5:c.775+83del ENSP00000424828.1:n.775+83del
ENST00000506873.5:n.646+83del
ENST00000508657.5:c.925+83del ENSP00000422099.1:n.925+83del
NM_001257194.1:c.925+83del NP_001244123.1:n.925+83del
NM_001257195.1:c.775+83del NP_001244124.1:n.775+83del
NM_017415.2:c.1021+83del NP_059111.2:n.1021+83del
NM_017415.3:c.1021+83del MANE Select NP_059111.2:n.1021+83del
NM_001257195.2:c.775+83del NP_001244124.1:n.775+83del