Canonical Allele Identifier: CA534159576
Gene: ELMOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85368753_85368754del , CM000664.2:g.85368753_85368754del GRCh38
NC_000002.11:g.85595876_85595877del , CM000664.1:g.85595876_85595877del GRCh37
NC_000002.10:g.85449387_85449388del NCBI36
NG_051291.1:g.19360_19361del

Transcript Alleles

HGVS Amino-acid Change
NM_001135022.2:c.267_268del MANE Select NP_001128494.1:p.Gly90GlufsTer4
ENST00000409013.8:c.267_268del MANE Select ENSP00000387139.3:p.Gly90GlufsTer4
NM_001135021.1:c.267_268del NP_001128493.1:p.Gly90GlufsTer4
NM_001135021.2:c.267_268del NP_001128493.1:p.Gly90GlufsTer4
NM_001135022.1:c.267_268del NP_001128494.1:p.Gly90GlufsTer4
NM_001135023.1:c.267_268del NP_001128495.1:p.Gly90GlufsTer4
NM_001135023.2:c.267_268del NP_001128495.1:p.Gly90GlufsTer4
NM_001329791.1:c.267_268del NP_001316720.1:p.Gly90GlufsTer4
NM_001329791.2:c.267_268del NP_001316720.1:p.Gly90GlufsTer4
NM_001329792.1:c.267_268del NP_001316721.1:p.Gly90GlufsTer4
NM_001329792.2:c.267_268del NP_001316721.1:p.Gly90GlufsTer4
NM_001329793.1:c.267_268del NP_001316722.1:p.Gly90GlufsTer4
NM_001329793.2:c.267_268del NP_001316722.1:p.Gly90GlufsTer4
NM_032213.4:c.267_268del NP_115589.2:p.Gly90GlufsTer4
NR_138131.1:n.704_705del
NR_138131.2:n.655_656del
NR_138132.1:n.1046_1047del
NR_138132.2:n.997_998del
NR_138133.1:n.609_610del
NR_138133.2:n.560_561del
ENST00000315658.11:c.267_268del ENSP00000318264.7:p.Gly90GlufsTer4
ENST00000393852.8:c.267_268del ENSP00000377434.4:p.Gly90GlufsTer4
ENST00000409013.7:c.267_268del ENSP00000387139.3:p.Gly90GlufsTer4
ENST00000409331.6:c.267_268del ENSP00000386257.2:p.Gly90GlufsTer4
ENST00000409344.7:c.267_268del ENSP00000386248.3:p.Gly90GlufsTer4
ENST00000409890.6:c.267_268del ENSP00000386304.2:p.Gly90GlufsTer4
ENST00000410106.5:c.267_268del ENSP00000387134.1:p.Gly90GlufsTer4
ENST00000414593.5:c.267_268del ENSP00000394774.1:p.Gly90GlufsTer4
ENST00000418268.5:c.267_268del ENSP00000393443.1:p.Gly90GlufsTer4
ENST00000423095.7:c.267_268del ENSP00000408745.3:p.Gly90GlufsTer4
ENST00000429764.5:c.130-2333_130-2332del ENSP00000408329.1:n.130-2333_130-2332del
ENST00000440462.5:c.*62_*63del ENSP00000398264.1:n.*62_*63del
ENST00000444108.7:c.267_268del ENSP00000401984.2:p.Gly90GlufsTer4
ENST00000446464.7:c.267_268del ENSP00000407599.3:p.Gly90GlufsTer4
ENST00000462891.7:c.267_268del ENSP00000436715.2:p.Gly90GlufsTer4
ENST00000488150.1:n.166_167del
ENST00000490508.5:n.479_480del
XM_005264596.2:c.267_268del XP_005264653.1:p.Gly90GlufsTer4
XM_005264597.2:c.267_268del XP_005264654.1:p.Gly90GlufsTer4
XM_005264598.2:c.267_268del XP_005264655.1:p.Gly90GlufsTer4
XM_006712116.1:c.267_268del XP_006712179.1:p.Gly90GlufsTer4
XM_024453169.1:c.267_268del XP_024308937.1:p.Gly90GlufsTer4
XM_024453170.1:c.267_268del XP_024308938.1:p.Gly90GlufsTer4
XM_024453171.1:c.267_268del XP_024308939.1:p.Gly90GlufsTer4
XM_024453172.1:c.267_268del XP_024308940.1:p.Gly90GlufsTer4
XR_001738978.1:n.748_749del
XR_001738979.1:n.653_654del
XR_426997.1:n.418_419del