Canonical Allele Identifier: CA2675416294

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628340-GGTATTTGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628341_137628349del , CM000667.2:g.137628341_137628349del	GRCh38
NC_000005.9:g.136964030_136964038del , CM000667.1:g.136964030_136964038del	GRCh37
NC_000005.8:g.136991929_136991937del	NCBI36
NG_032569.1:g.112742_112750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1539_1547del MANE Select	ENSP00000312397.4:p.Thr514_Thr516del
ENST00000309755.8:c.1539_1547del	ENSP00000312397.4:p.Thr514_Thr516del
ENST00000447439.6:n.1595_1603del
ENST00000504208.5:c.*423_*431del	ENSP00000423585.1:n.*423_*431del
ENST00000506491.5:c.1293_1301del	ENSP00000424828.1:p.Thr432_Thr434del
ENST00000506873.5:n.1062_1070del
ENST00000508657.5:c.1443_1451del	ENSP00000422099.1:p.Thr482_Thr484del
ENST00000509694.1:n.332_340del
NM_001257194.1:c.1443_1451del	NP_001244123.1:p.Thr482_Thr484del
NM_001257195.1:c.1293_1301del	NP_001244124.1:p.Thr432_Thr434del
NM_017415.2:c.1539_1547del	NP_059111.2:p.Thr514_Thr516del
NM_017415.3:c.1539_1547del MANE Select	NP_059111.2:p.Thr514_Thr516del
NM_001257195.2:c.1293_1301del	NP_001244124.1:p.Thr432_Thr434del