Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA , CM000663.2:g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | GRCh38 |
| NC_000001.10:g.215972398_215972419delinsCTGCCACAGCAGGAATCACCAA , CM000663.1:g.215972398_215972419delinsCTGCCACAGCAGGAATCACCAA | GRCh37 |
| NC_000001.9:g.214039021_214039042delinsCTGCCACAGCAGGAATCACCAA | NCBI36 |
| NG_009497.1:g.629320_629341delinsTTGGTGATTCCTGCTGTGGCAG | |
| NG_009497.2:g.629372_629393delinsTTGGTGATTCCTGCTGTGGCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG MANE Select | ENSP00000305941.3:p.Ile3263= | |
| ENST00000674083.1:c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG | ENSP00000501296.1:p.Ile3263= | |
| ENST00000307340.7:c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG | ENSP00000305941.3:p.Ile3263= | |
| NM_206933.2:c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG | NP_996816.2:p.Ile3263= | |
| NM_206933.3:c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG | NP_996816.2:p.Ile3263= | |
| NM_206933.4:c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG MANE Select | NP_996816.3:p.Ile3263= |