Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110528del , CM000670.2:g.118110528del | GRCh38 |
| NC_000008.10:g.119122767del , CM000670.1:g.119122767del | GRCh37 |
| NC_000008.9:g.119191948del | NCBI36 |
| NG_007455.2:g.6294del , LRG_493:g.6294del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.521del MANE Select | ENSP00000367446.3:p.Leu174Ter | |
| ENST00000378204.6:c.521del | ENSP00000367446.2:p.Leu174Ter | |
| ENST00000437196.1:c.73+448del | ENSP00000407299.1:n.73+448del | |
| NM_000127.2:c.521del , LRG_493t1:c.521del | NP_000118.2:p.Leu174Ter | |
| NM_000127.3:c.521del MANE Select | NP_000118.2:p.Leu174Ter |