MyVariant.info:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178741214_178741217dup , CM000664.2:g.178741214_178741217dup | GRCh38 |
| NC_000002.11:g.179605941_179605944dup , CM000664.1:g.179605941_179605944dup | GRCh37 |
| NC_000002.10:g.179314186_179314189dup | NCBI36 |
| NG_011618.3:g.94586_94589dup , LRG_391:g.94586_94589dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10361-2857_10361-2854dup | ENSP00000343764.6:n.10361-2857_10361-2854dup | |
| ENST00000342175.11:c.11503_11506dup | ENSP00000340554.6:p.Gly3836GlufsTer7 | |
| ENST00000359218.10:c.11302_11305dup | ENSP00000352154.5:p.Gly3769GlufsTer7 | |
| ENST00000342175.10:c.11503_11506dup | ENSP00000340554.6:p.Gly3836GlufsTer7 | |
| ENST00000342992.10:c.10361-2857_10361-2854dup | ENSP00000343764.6:n.10361-2857_10361-2854dup | |
| ENST00000359218.9:c.11302_11305dup | ENSP00000352154.5:p.Gly3769GlufsTer7 | |
| ENST00000460472.6:c.10927_10930dup | ENSP00000434586.1:p.Gly3644GlufsTer7 | |
| ENST00000589042.5:c.12016_12019dup MANE Select | ENSP00000467141.1:p.Gly4007GlufsTer7 | |
| ENST00000591111.5:c.11065_11068dup | ENSP00000465570.1:p.Gly3690GlufsTer7 | |
| ENST00000615779.4:c.11065_11068dup | ENSP00000483597.1:p.Gly3690GlufsTer7 | |
| NM_001256850.1:c.11065_11068dup | NP_001243779.1:p.Gly3690GlufsTer7 | |
| NM_001267550.2:c.12016_12019dup MANE Select | NP_001254479.2:p.Gly4007GlufsTer7 | |
| NM_003319.4:c.10927_10930dup | NP_003310.4:p.Gly3644GlufsTer7 | |
| NM_133378.4:c.10361-2857_10361-2854dup | NP_596869.4:n.10361-2857_10361-2854dup | |
| NM_133432.3:c.11302_11305dup | NP_597676.3:p.Gly3769GlufsTer7 | |
| NM_133437.4:c.11503_11506dup | NP_597681.4:p.Gly3836GlufsTer7 | |
| XM_011511729.1:c.11113_11116dup | XP_011510031.1:p.Gly3706GlufsTer7 | |
| XM_011511730.1:c.11113_11116dup | XP_011510032.1:p.Gly3706GlufsTer7 | |
| XM_011511731.1:c.10972_10975dup | XP_011510033.1:p.Gly3659GlufsTer7 | |
| XM_017004819.1:c.11068_11071dup | XP_016860308.1:p.Gly3691GlufsTer7 | |
| XM_017004820.1:c.10364-2857_10364-2854dup | XP_016860309.1:n.10364-2857_10364-2854dup | |
| XM_017004821.1:c.10361-2857_10361-2854dup | XP_016860310.1:n.10361-2857_10361-2854dup | |
| XM_017004822.1:c.11068_11071dup | XP_016860311.1:p.Gly3691GlufsTer7 | |
| XM_017004823.1:c.11068_11071dup | XP_016860312.1:p.Gly3691GlufsTer7 | |
| XM_024453094.1:c.11068_11071dup | XP_024308862.1:p.Gly3691GlufsTer7 | |
| XM_024453095.1:c.11068_11071dup | XP_024308863.1:p.Gly3691GlufsTer7 | |
| XM_024453096.1:c.11068_11071dup | XP_024308864.1:p.Gly3691GlufsTer7 | |
| XM_024453097.1:c.11068_11071dup | XP_024308865.1:p.Gly3691GlufsTer7 | |
| XM_024453098.1:c.11068_11071dup | XP_024308866.1:p.Gly3691GlufsTer7 | |
| XM_024453099.1:c.11068_11071dup | XP_024308867.1:p.Gly3691GlufsTer7 |