ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178740588del , CM000664.2:g.178740588del | GRCh38 |
| NC_000002.11:g.179605315del , CM000664.1:g.179605315del | GRCh37 |
| NC_000002.10:g.179313560del | NCBI36 |
| NG_011618.3:g.95215del , LRG_391:g.95215del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10361-2228del | ENSP00000343764.6:n.10361-2228del | |
| ENST00000342175.11:c.12132del | ENSP00000340554.6:p.Gln4044HisfsTer4 | |
| ENST00000359218.10:c.11931del | ENSP00000352154.5:p.Gln3977HisfsTer4 | |
| ENST00000342175.10:c.12132del | ENSP00000340554.6:p.Gln4044HisfsTer4 | |
| ENST00000342992.10:c.10361-2228del | ENSP00000343764.6:n.10361-2228del | |
| ENST00000359218.9:c.11931del | ENSP00000352154.5:p.Gln3977HisfsTer4 | |
| ENST00000460472.6:c.11556del | ENSP00000434586.1:p.Gln3852HisfsTer4 | |
| ENST00000589042.5:c.12645del MANE Select | ENSP00000467141.1:p.Gln4215HisfsTer4 | |
| ENST00000591111.5:c.11694del | ENSP00000465570.1:p.Gln3898HisfsTer4 | |
| ENST00000615779.4:c.11694del | ENSP00000483597.1:p.Gln3898HisfsTer4 | |
| NM_001256850.1:c.11694del | NP_001243779.1:p.Gln3898HisfsTer4 | |
| NM_001267550.2:c.12645del MANE Select | NP_001254479.2:p.Gln4215HisfsTer4 | |
| NM_003319.4:c.11556del | NP_003310.4:p.Gln3852HisfsTer4 | |
| NM_133378.4:c.10361-2228del | NP_596869.4:n.10361-2228del | |
| NM_133432.3:c.11931del | NP_597676.3:p.Gln3977HisfsTer4 | |
| NM_133437.4:c.12132del | NP_597681.4:p.Gln4044HisfsTer4 | |
| XM_011511729.1:c.11742del | XP_011510031.1:p.Gln3914HisfsTer4 | |
| XM_011511730.1:c.11742del | XP_011510032.1:p.Gln3914HisfsTer4 | |
| XM_011511731.1:c.11601del | XP_011510033.1:p.Gln3867HisfsTer4 | |
| XM_017004819.1:c.11697del | XP_016860308.1:p.Gln3899HisfsTer4 | |
| XM_017004820.1:c.10364-2228del | XP_016860309.1:n.10364-2228del | |
| XM_017004821.1:c.10361-2228del | XP_016860310.1:n.10361-2228del | |
| XM_017004822.1:c.11697del | XP_016860311.1:p.Gln3899HisfsTer4 | |
| XM_017004823.1:c.11697del | XP_016860312.1:p.Gln3899HisfsTer4 | |
| XM_024453094.1:c.11697del | XP_024308862.1:p.Gln3899HisfsTer4 | |
| XM_024453095.1:c.11697del | XP_024308863.1:p.Gln3899HisfsTer4 | |
| XM_024453096.1:c.11697del | XP_024308864.1:p.Gln3899HisfsTer4 | |
| XM_024453097.1:c.11697del | XP_024308865.1:p.Gln3899HisfsTer4 | |
| XM_024453098.1:c.11697del | XP_024308866.1:p.Gln3899HisfsTer4 | |
| XM_024453099.1:c.11697del | XP_024308867.1:p.Gln3899HisfsTer4 |