Canonical Allele Identifier: CA917590317
Gene: KLHL3 HGNC NCBI

Linked Data

dbSNP Id: rs1561581188

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628245_137628257dup , CM000667.2:g.137628245_137628257dup GRCh38
NC_000005.9:g.136963934_136963946dup , CM000667.1:g.136963934_136963946dup GRCh37
NC_000005.8:g.136991833_136991845dup NCBI36
NG_032569.1:g.112836_112848dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1591+42_1591+54dup MANE Select ENSP00000312397.4:n.1591+42_1591+54dup
ENST00000309755.8:c.1591+42_1591+54dup ENSP00000312397.4:n.1591+42_1591+54dup
ENST00000447439.6:n.1647+42_1647+54dup
ENST00000504208.5:c.*475+42_*475+54dup ENSP00000423585.1:n.*475+42_*475+54dup
ENST00000506491.5:c.1345+42_1345+54dup ENSP00000424828.1:n.1345+42_1345+54dup
ENST00000506873.5:n.1114+42_1114+54dup
ENST00000508657.5:c.1495+42_1495+54dup ENSP00000422099.1:n.1495+42_1495+54dup
ENST00000509694.1:n.426_438dup
NM_001257194.1:c.1495+42_1495+54dup NP_001244123.1:n.1495+42_1495+54dup
NM_001257195.1:c.1345+42_1345+54dup NP_001244124.1:n.1345+42_1345+54dup
NM_017415.2:c.1591+42_1591+54dup NP_059111.2:n.1591+42_1591+54dup
NM_017415.3:c.1591+42_1591+54dup MANE Select NP_059111.2:n.1591+42_1591+54dup
NM_001257195.2:c.1345+42_1345+54dup NP_001244124.1:n.1345+42_1345+54dup