Canonical Allele Identifier: CA2675417717

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639720-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639721_137639722insGA , CM000667.2:g.137639721_137639722insGA	GRCh38
NC_000005.9:g.136975410_136975411insGA , CM000667.1:g.136975410_136975411insGA	GRCh37
NC_000005.8:g.137003309_137003310insGA	NCBI36
NG_032569.1:g.101370_101371insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+139_1021+140insCT MANE Select	ENSP00000312397.4:n.1021+139_1021+140insCT
ENST00000309755.8:c.1021+139_1021+140insCT	ENSP00000312397.4:n.1021+139_1021+140insCT
ENST00000502381.1:n.608+139_608+140insCT
ENST00000504208.5:c.*335-11284_*335-11283insCT	ENSP00000423585.1:n.*335-11284_*335-11283insCT
ENST00000505853.1:c.901+139_901+140insCT	ENSP00000426173.1:n.901+139_901+140insCT
ENST00000506491.5:c.775+139_775+140insCT	ENSP00000424828.1:n.775+139_775+140insCT
ENST00000506873.5:n.646+139_646+140insCT
ENST00000508657.5:c.925+139_925+140insCT	ENSP00000422099.1:n.925+139_925+140insCT
NM_001257194.1:c.925+139_925+140insCT	NP_001244123.1:n.925+139_925+140insCT
NM_001257195.1:c.775+139_775+140insCT	NP_001244124.1:n.775+139_775+140insCT
NM_017415.2:c.1021+139_1021+140insCT	NP_059111.2:n.1021+139_1021+140insCT
NM_017415.3:c.1021+139_1021+140insCT MANE Select	NP_059111.2:n.1021+139_1021+140insCT
NM_001257195.2:c.775+139_775+140insCT	NP_001244124.1:n.775+139_775+140insCT