Linked Data
ClinVar Variation Id:
141999
dbSNP Id:
rs587782170
ExAC:
17:56772330 CAA / C
gnomAD v2:
17-56772330-CAA-C
gnomAD v3:
17-58694969-CAA-C
gnomAD v4:
17-58694969-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58694971_58694972del , CM000679.2:g.58694971_58694972del | GRCh38 |
| NC_000017.10:g.56772332_56772333del , CM000679.1:g.56772332_56772333del | GRCh37 |
| NC_000017.9:g.54127331_54127332del | NCBI36 |
| NG_023199.1:g.7370_7371del , LRG_314:g.7370_7371del | |
| NG_047169.1:g.2109_2110del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461271.6:c.-166_-165del | ENSP00000464056.2:n.-166_-165del | |
| ENST00000697675.1:n.1280_1281del | ||
| ENST00000697676.1:n.246_247del | ||
| ENST00000697677.1:n.1267_1268del | ||
| ENST00000697678.1:n.88_89del | ||
| ENST00000697679.1:n.1260_1261del | ||
| ENST00000697680.1:c.*1050_*1051del | ENSP00000513392.1:n.*1050_*1051del | |
| ENST00000697681.1:c.*1050_*1051del | ENSP00000513393.1:n.*1050_*1051del | |
| ENST00000697683.1:c.*1050_*1051del | ENSP00000513395.1:n.*1050_*1051del | |
| ENST00000697684.1:n.246_247del | ||
| ENST00000697685.1:c.*1050_*1051del | ENSP00000513396.1:n.*1050_*1051del | |
| ENST00000697686.1:c.-166_-165del | ENSP00000513397.1:n.-166_-165del | |
| ENST00000697687.1:n.232_233del | ||
| ENST00000697688.1:n.232_233del | ||
| ENST00000697689.1:c.*889_*890del | ENSP00000513398.1:n.*889_*890del | |
| ENST00000697690.1:c.186_187del | ENSP00000513399.1:p.Gln62HisfsTer10 | |
| ENST00000697691.1:c.*158_*159del | ENSP00000513400.1:n.*158_*159del | |
| ENST00000697692.1:c.*198_*199del | ENSP00000513401.1:n.*198_*199del | |
| ENST00000697693.1:n.961_962del | ||
| ENST00000697694.1:c.-166_-165del | ENSP00000513402.1:n.-166_-165del | |
| ENST00000697695.1:n.793_794del | ||
| ENST00000337432.9:c.186_187del MANE Select | ENSP00000336701.4:p.Gln62HisfsTer10 | |
| ENST00000337432.8:c.186_187del | ENSP00000336701.4:p.Gln62HisfsTer10 | |
| ENST00000421782.3:c.186_187del | ENSP00000391450.2:p.Gln62HisfsTer10 | |
| ENST00000461271.5:c.-166_-165del | ENSP00000464056.1:n.-166_-165del | |
| ENST00000475762.5:c.*889_*890del | ENSP00000432421.1:n.*889_*890del | |
| ENST00000482007.5:c.186_187del | ENSP00000433332.1:p.Gln62HisfsTer10 | |
| ENST00000486827.1:c.*1050_*1051del | ENSP00000436761.1:n.*1050_*1051del | |
| ENST00000487525.5:c.186_187del | ENSP00000431637.1:p.Gln62HisfsTer10 | |
| ENST00000487921.5:n.98_99del | ||
| ENST00000583539.5:c.186_187del | ENSP00000463121.1:p.Gln62HisfsTer10 | |
| ENST00000584617.5:c.127-1722_127-1721del | ||
| NM_002876.3:c.186_187del | NP_002867.1:p.Gln62HisfsTer10 | |
| NM_058216.2:c.186_187del | NP_478123.1:p.Gln62HisfsTer10 | |
| NR_103872.1:n.257_258del | ||
| NR_103873.1:n.154_155del | ||
| XM_006722001.2:c.186_187del | XP_006722064.1:p.Gln62HisfsTer10 | |
| XM_006722002.2:c.186_187del | XP_006722065.1:p.Gln62HisfsTer10 | |
| XM_006722004.2:c.-166_-165del | XP_006722067.1:n.-166_-165del | |
| XM_006722005.2:c.-166_-165del | XP_006722068.1:n.-166_-165del | |
| XM_011525092.1:c.-166_-165del | XP_011523394.1:n.-166_-165del | |
| XM_011525093.1:c.-166_-165del | XP_011523395.1:n.-166_-165del | |
| XM_011525094.1:c.-166_-165del | XP_011523396.1:n.-166_-165del | |
| XR_934513.1:n.259_260del | ||
| XR_934514.1:n.259_260del | ||
| XM_006722001.4:c.186_187del | XP_006722064.1:p.Gln62HisfsTer10 | |
| XM_006722002.4:c.186_187del | XP_006722065.1:p.Gln62HisfsTer10 | |
| XM_006722004.3:c.-166_-165del | XP_006722067.1:n.-166_-165del | |
| XM_006722005.3:c.-166_-165del | XP_006722068.1:n.-166_-165del | |
| XM_011525092.2:c.-166_-165del | XP_011523394.1:n.-166_-165del | |
| XM_011525093.2:c.-166_-165del | XP_011523395.1:n.-166_-165del | |
| XM_011525094.2:c.-166_-165del | XP_011523396.1:n.-166_-165del | |
| XM_017024914.1:c.-166_-165del | XP_016880403.1:n.-166_-165del | |
| XM_017024915.1:c.-166_-165del | XP_016880404.1:n.-166_-165del | |
| XM_017024916.1:c.-166_-165del | XP_016880405.1:n.-166_-165del | |
| XM_017024917.1:c.-166_-165del | XP_016880406.1:n.-166_-165del | |
| XM_017024918.2:c.-166_-165del | XP_016880407.1:n.-166_-165del | |
| XM_017024919.1:c.-166_-165del | XP_016880408.1:n.-166_-165del | |
| XR_934513.3:n.690_691del | ||
| XR_934514.3:n.690_691del | ||
| NM_058216.3:c.186_187del MANE Select | NP_478123.1:p.Gln62HisfsTer10 | |
| NR_103872.2:n.228_229del | ||
| NM_002876.4:c.186_187del | NP_002867.1:p.Gln62HisfsTer10 |