Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423481del , CM000676.2:g.23423481del | GRCh38 |
| NC_000014.8:g.23892690del , CM000676.1:g.23892690del | GRCh37 |
| NC_000014.7:g.22962530del | NCBI36 |
| NG_007884.1:g.17181del , LRG_384:g.17181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+66del MANE Select | ENSP00000347507.3:n.3099+66del | |
| ENST00000355349.3:c.3099+66del | ENSP00000347507.3:n.3099+66del | |
| NM_000257.3:c.3099+66del | NP_000248.2:n.3099+66del | |
| XR_245686.3:n.3205+66del | ||
| XM_017021340.1:c.3099+66del | XP_016876829.1:n.3099+66del | |
| NM_000257.4:c.3099+66del MANE Select | NP_000248.2:n.3099+66del |