Canonical Allele Identifier: CA2675416292

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628308-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628309_137628310del , CM000667.2:g.137628309_137628310del	GRCh38
NC_000005.9:g.136963998_136963999del , CM000667.1:g.136963998_136963999del	GRCh37
NC_000005.8:g.136991897_136991898del	NCBI36
NG_032569.1:g.112781_112782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1578_1579del MANE Select	ENSP00000312397.4:p.Cys526TrpfsTer20
ENST00000309755.8:c.1578_1579del	ENSP00000312397.4:p.Cys526TrpfsTer20
ENST00000447439.6:n.1634_1635del
ENST00000504208.5:c.*462_*463del	ENSP00000423585.1:n.*462_*463del
ENST00000506491.5:c.1332_1333del	ENSP00000424828.1:p.Cys444TrpfsTer20
ENST00000506873.5:n.1101_1102del
ENST00000508657.5:c.1482_1483del	ENSP00000422099.1:p.Cys494TrpfsTer20
ENST00000509694.1:n.371_372del
NM_001257194.1:c.1482_1483del	NP_001244123.1:p.Cys494TrpfsTer20
NM_001257195.1:c.1332_1333del	NP_001244124.1:p.Cys444TrpfsTer20
NM_017415.2:c.1578_1579del	NP_059111.2:p.Cys526TrpfsTer20
NM_017415.3:c.1578_1579del MANE Select	NP_059111.2:p.Cys526TrpfsTer20
NM_001257195.2:c.1332_1333del	NP_001244124.1:p.Cys444TrpfsTer20