Linked Data
gnomAD v4:
1-215675464-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675467_215675468del , CM000663.2:g.215675467_215675468del | GRCh38 |
| NC_000001.10:g.215848809_215848810del , CM000663.1:g.215848809_215848810del | GRCh37 |
| NC_000001.9:g.213915432_213915433del | NCBI36 |
| NG_009497.1:g.752931_752932del | |
| NG_009497.2:g.752983_752984del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12445_12446del MANE Select | ENSP00000305941.3:p.Trp4149AspfsTer3 | |
| ENST00000674083.1:c.12445_12446del | ENSP00000501296.1:p.Trp4149AspfsTer3 | |
| ENST00000307340.7:c.12445_12446del | ENSP00000305941.3:p.Trp4149AspfsTer3 | |
| NM_206933.2:c.12445_12446del | NP_996816.2:p.Trp4149AspfsTer3 | |
| NM_206933.3:c.12445_12446del | NP_996816.2:p.Trp4149AspfsTer3 | |
| NM_206933.4:c.12445_12446del MANE Select | NP_996816.3:p.Trp4149AspfsTer3 |