Linked Data
ClinVar Variation Id:
452329
ClinVar RCV Id:
RCV000520719
dbSNP Id:
rs1553472241
gnomAD v4:
2-86337535-C-CCGGGCGGCGCGGCTCGGCTAGGCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86337548_86337572dup , CM000664.2:g.86337548_86337572dup | GRCh38 |
| NC_000002.11:g.86564671_86564695dup , CM000664.1:g.86564671_86564695dup | GRCh37 |
| NC_000002.10:g.86418182_86418206dup | NCBI36 |
| NG_013037.1:g.5524_5548dup , LRG_713:g.5524_5548dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.-50_-26dup | ENSP00000495610.2:n.-50_-26dup | |
| ENST00000686220.1:c.-58_-34dup | ENSP00000509904.1:n.-58_-34dup | |
| ENST00000689156.1:c.-50_-26dup | ENSP00000509143.1:n.-50_-26dup | |
| ENST00000691093.1:c.-153_-129dup | ENSP00000509465.1:n.-153_-129dup | |
| ENST00000691703.1:c.-50_-26dup | ENSP00000508496.1:n.-50_-26dup | |
| ENST00000692664.1:c.-50_-26dup | ENSP00000508656.1:n.-50_-26dup | |
| ENST00000693329.1:c.-50_-26dup | ENSP00000508490.1:n.-50_-26dup | |
| ENST00000453231.6:c.53+464_53+488dup | ENSP00000392197.2:n.53+464_53+488dup | |
| ENST00000535845.6:c.-58_-34dup | ENSP00000437567.1:n.-58_-34dup | |
| ENST00000538924.7:c.-50_-26dup MANE Select | ENSP00000438346.3:n.-50_-26dup | |
| ENST00000541910.6:c.-50_-26dup | ENSP00000442681.1:n.-50_-26dup | |
| ENST00000165698.9:c.-50_-26dup | ENSP00000165698.5:n.-50_-26dup | |
| ENST00000428491.5:c.-58_-34dup | ENSP00000400607.1:n.-58_-34dup | |
| ENST00000437769.5:c.-50_-26dup | ENSP00000401140.1:n.-50_-26dup | |
| ENST00000453231.5:c.53+464_53+488dup | ENSP00000392197.1:n.53+464_53+488dup | |
| ENST00000535845.5:c.-58_-34dup | ENSP00000437567.1:n.-58_-34dup | |
| ENST00000538924.5:c.53+464_53+488dup | ENSP00000438346.1:n.53+464_53+488dup | |
| ENST00000541910.5:c.-50_-26dup | ENSP00000442681.1:n.-50_-26dup | |
| NM_001164730.1:c.53+464_53+488dup , LRG_713t1:c.53+464_53+488dup | NP_001158202.1:n.53+464_53+488dup | |
| NM_001164731.1:c.-58_-34dup | NP_001158203.1:n.-58_-34dup | |
| NM_001164732.1:c.-50_-26dup | NP_001158204.1:n.-50_-26dup | |
| NM_022912.2:c.-50_-26dup , LRG_713t2:c.-50_-26dup | NP_075063.1:n.-50_-26dup | |
| XM_005264502.1:c.-50_-26dup | XP_005264559.1:n.-50_-26dup | |
| XM_011533043.1:c.53+464_53+488dup | XP_011531345.1:n.53+464_53+488dup | |
| XM_011533046.1:c.53+464_53+488dup | XP_011531348.1:n.53+464_53+488dup | |
| XM_005264502.2:c.-50_-26dup | XP_005264559.1:n.-50_-26dup | |
| NM_001164730.2:c.53+464_53+488dup | NP_001158202.1:n.53+464_53+488dup | |
| NM_001164731.2:c.-58_-34dup | NP_001158203.1:n.-58_-34dup | |
| NM_001164732.2:c.-50_-26dup | NP_001158204.1:n.-50_-26dup | |
| NM_001371279.1:c.-50_-26dup MANE Select | NP_001358208.1:n.-50_-26dup | |
| NM_001371280.1:c.-50_-26dup | NP_001358209.1:n.-50_-26dup | |
| NM_022912.3:c.-50_-26dup | NP_075063.1:n.-50_-26dup |