Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145259del , CM000668.2:g.6145259del | GRCh38 |
| NC_000006.11:g.6145492del , CM000668.1:g.6145492del | GRCh37 |
| NC_000006.10:g.6090491del | NCBI36 |
| NG_008107.1:g.180436del , LRG_549:g.180436del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*363del MANE Select | ENSP00000264870.3:n.*363del | |
| ENST00000264870.7:c.*363del | ENSP00000264870.3:n.*363del | |
| NM_000129.3:c.*363del , LRG_549t1:c.*363del | NP_000120.2:n.*363del | |
| XM_006715010.2:c.*363del | XP_006715073.1:n.*363del | |
| XM_011514342.1:c.*363del | XP_011512644.1:n.*363del | |
| NM_000129.4:c.*363del MANE Select | NP_000120.2:n.*363del |