Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110685del , CM000670.2:g.118110685del | GRCh38 |
| NC_000008.10:g.119122924del , CM000670.1:g.119122924del | GRCh37 |
| NC_000008.9:g.119192105del | NCBI36 |
| NG_007455.2:g.6135del , LRG_493:g.6135del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378204.7:c.362del MANE Select | ENSP00000367446.3:p.Gln121ArgfsTer15 | |
| ENST00000378204.6:c.362del | ENSP00000367446.2:p.Gln121ArgfsTer15 | |
| ENST00000437196.1:c.73+289del | ENSP00000407299.1:n.73+289del | |
| NM_000127.2:c.362del , LRG_493t1:c.362del | NP_000118.2:p.Gln121ArgfsTer15 | |
| NM_000127.3:c.362del MANE Select | NP_000118.2:p.Gln121ArgfsTer15 |