Canonical Allele Identifier: CA1585497691

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639121_137639131delinsCATACACGTGG , CM000667.2:g.137639121_137639131delinsCATACACGTGG	GRCh38
NC_000005.9:g.136974810_136974820delinsCATACACGTGG , CM000667.1:g.136974810_136974820delinsCATACACGTGG	GRCh37
NC_000005.8:g.137002709_137002719delinsCATACACGTGG	NCBI36
NG_032569.1:g.101960_101970delinsCCACGTGTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1041_1051delinsCCACGTGTATG MANE Select	ENSP00000312397.4:p.Gly347=
ENST00000309755.8:c.1041_1051delinsCCACGTGTATG	ENSP00000312397.4:p.Gly347=
ENST00000502381.1:n.628_638delinsCCACGTGTATG
ENST00000504208.5:c.*335-10694_*335-10684delinsCCACGTGTATG	ENSP00000423585.1:n.*335-10694_*335-10684delinsCCACGTGTATG
ENST00000505853.1:c.921_931delinsCCACGTGTATG	ENSP00000426173.1:p.Gly307=
ENST00000506491.5:c.795_805delinsCCACGTGTATG	ENSP00000424828.1:p.Gly265=
ENST00000506873.5:n.666_676delinsCCACGTGTATG
ENST00000508657.5:c.945_955delinsCCACGTGTATG	ENSP00000422099.1:p.Gly315=
NM_001257194.1:c.945_955delinsCCACGTGTATG	NP_001244123.1:p.Gly315=
NM_001257195.1:c.795_805delinsCCACGTGTATG	NP_001244124.1:p.Gly265=
NM_017415.2:c.1041_1051delinsCCACGTGTATG	NP_059111.2:p.Gly347=
NM_017415.3:c.1041_1051delinsCCACGTGTATG MANE Select	NP_059111.2:p.Gly347=
NM_001257195.2:c.795_805delinsCCACGTGTATG	NP_001244124.1:p.Gly265=