Canonical Allele Identifier: CA2695205206
Gene: KLHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628354del , CM000667.2:g.137628354del GRCh38
NC_000005.9:g.136964043del , CM000667.1:g.136964043del GRCh37
NC_000005.8:g.136991942del NCBI36
NG_032569.1:g.112738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1535del MANE Select ENSP00000312397.4:p.Pro512LeufsTer12
ENST00000309755.8:c.1535del ENSP00000312397.4:p.Pro512LeufsTer12
ENST00000447439.6:n.1591del
ENST00000504208.5:c.*419del ENSP00000423585.1:n.*419del
ENST00000506491.5:c.1289del ENSP00000424828.1:p.Pro430LeufsTer12
ENST00000506873.5:n.1058del
ENST00000508657.5:c.1439del ENSP00000422099.1:p.Pro480LeufsTer12
ENST00000509694.1:n.328del
NM_001257194.1:c.1439del NP_001244123.1:p.Pro480LeufsTer12
NM_001257195.1:c.1289del NP_001244124.1:p.Pro430LeufsTer12
NM_017415.2:c.1535del NP_059111.2:p.Pro512LeufsTer12
NM_017415.3:c.1535del MANE Select NP_059111.2:p.Pro512LeufsTer12
NM_001257195.2:c.1289del NP_001244124.1:p.Pro430LeufsTer12