Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427006del , CM000669.2:g.94427006del | GRCh38 |
| NC_000007.13:g.94056318del , CM000669.1:g.94056318del | GRCh37 |
| NC_000007.12:g.93894254del | NCBI36 |
| NG_007405.1:g.37446del , LRG_2:g.37446del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3106-2del MANE Select | ENSP00000297268.6:n.3106-2del | |
| ENST00000297268.10:c.3106-2del | ENSP00000297268.6:n.3106-2del | |
| ENST00000481570.5:n.3554del | ||
| ENST00000488121.1:n.22-2del | ||
| ENST00000492110.1:n.224del | ||
| ENST00000620463.1:c.3100-2del | ENSP00000477719.1:n.3100-2del | |
| NM_000089.3:c.3106-2del , LRG_2t1:c.3106-2del | NP_000080.2:n.3106-2del | |
| NM_000089.4:c.3106-2del MANE Select | NP_000080.2:n.3106-2del |