Canonical Allele Identifier: CA2675416272

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628234-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628235_137628236insAA , CM000667.2:g.137628235_137628236insAA	GRCh38
NC_000005.9:g.136963924_136963925insAA , CM000667.1:g.136963924_136963925insAA	GRCh37
NC_000005.8:g.136991823_136991824insAA	NCBI36
NG_032569.1:g.112856_112857insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+62_1591+63insTT MANE Select	ENSP00000312397.4:n.1591+62_1591+63insTT
ENST00000309755.8:c.1591+62_1591+63insTT	ENSP00000312397.4:n.1591+62_1591+63insTT
ENST00000447439.6:n.1647+62_1647+63insTT
ENST00000504208.5:c.*475+62_*475+63insTT	ENSP00000423585.1:n.*475+62_*475+63insTT
ENST00000506491.5:c.1345+62_1345+63insTT	ENSP00000424828.1:n.1345+62_1345+63insTT
ENST00000506873.5:n.1114+62_1114+63insTT
ENST00000508657.5:c.1495+62_1495+63insTT	ENSP00000422099.1:n.1495+62_1495+63insTT
ENST00000509694.1:n.446_447insTT
NM_001257194.1:c.1495+62_1495+63insTT	NP_001244123.1:n.1495+62_1495+63insTT
NM_001257195.1:c.1345+62_1345+63insTT	NP_001244124.1:n.1345+62_1345+63insTT
NM_017415.2:c.1591+62_1591+63insTT	NP_059111.2:n.1591+62_1591+63insTT
NM_017415.3:c.1591+62_1591+63insTT MANE Select	NP_059111.2:n.1591+62_1591+63insTT
NM_001257195.2:c.1345+62_1345+63insTT	NP_001244124.1:n.1345+62_1345+63insTT