Canonical Allele Identifier: CA1585498235
Gene: KLHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639726_137639732delinsAGTGTGC , CM000667.2:g.137639726_137639732delinsAGTGTGC GRCh38
NC_000005.9:g.136975415_136975421delinsAGTGTGC , CM000667.1:g.136975415_136975421delinsAGTGTGC GRCh37
NC_000005.8:g.137003314_137003320delinsAGTGTGC NCBI36
NG_032569.1:g.101359_101365delinsGCACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1021+128_1021+134delinsGCACACT MANE Select ENSP00000312397.4:n.1021+128_1021+134delinsGCACACT
ENST00000309755.8:c.1021+128_1021+134delinsGCACACT ENSP00000312397.4:n.1021+128_1021+134delinsGCACACT
ENST00000502381.1:n.608+128_608+134delinsGCACACT
ENST00000504208.5:c.*335-11295_*335-11289delinsGCACACT ENSP00000423585.1:n.*335-11295_*335-11289delinsGCACACT
ENST00000505853.1:c.901+128_901+134delinsGCACACT ENSP00000426173.1:n.901+128_901+134delinsGCACACT
ENST00000506491.5:c.775+128_775+134delinsGCACACT ENSP00000424828.1:n.775+128_775+134delinsGCACACT
ENST00000506873.5:n.646+128_646+134delinsGCACACT
ENST00000508657.5:c.925+128_925+134delinsGCACACT ENSP00000422099.1:n.925+128_925+134delinsGCACACT
NM_001257194.1:c.925+128_925+134delinsGCACACT NP_001244123.1:n.925+128_925+134delinsGCACACT
NM_001257195.1:c.775+128_775+134delinsGCACACT NP_001244124.1:n.775+128_775+134delinsGCACACT
NM_017415.2:c.1021+128_1021+134delinsGCACACT NP_059111.2:n.1021+128_1021+134delinsGCACACT
NM_017415.3:c.1021+128_1021+134delinsGCACACT MANE Select NP_059111.2:n.1021+128_1021+134delinsGCACACT
NM_001257195.2:c.775+128_775+134delinsGCACACT NP_001244124.1:n.775+128_775+134delinsGCACACT