Canonical Allele Identifier: CA645560142
Gene: KLHL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137639001_137639002delinsTT , CM000667.2:g.137639001_137639002delinsTT GRCh38
NC_000005.9:g.136974690_136974691delinsTT , CM000667.1:g.136974690_136974691delinsTT GRCh37
NC_000005.8:g.137002589_137002590delinsTT NCBI36
NG_032569.1:g.102089_102090delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1170_1171delinsAA MANE Select ENSP00000312397.4:p.Val391Met
ENST00000309755.8:c.1170_1171delinsAA ENSP00000312397.4:p.Val391Met
ENST00000502381.1:n.757_758delinsAA
ENST00000504208.5:c.*335-10565_*335-10564delinsAA ENSP00000423585.1:n.*335-10565_*335-10564delinsAA
ENST00000505853.1:c.1050_1051delinsAA ENSP00000426173.1:p.Val351Met
ENST00000506491.5:c.924_925delinsAA ENSP00000424828.1:p.Val309Met
ENST00000506873.5:n.795_796delinsAA
ENST00000508657.5:c.1074_1075delinsAA ENSP00000422099.1:p.Val359Met
NM_001257194.1:c.1074_1075delinsAA NP_001244123.1:p.Val359Met
NM_001257195.1:c.924_925delinsAA NP_001244124.1:p.Val309Met
NM_017415.2:c.1170_1171delinsAA NP_059111.2:p.Val391Met
NM_017415.3:c.1170_1171delinsAA MANE Select NP_059111.2:p.Val391Met
NM_001257195.2:c.924_925delinsAA NP_001244124.1:p.Val309Met