Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835483del , CM000670.2:g.117835483del | GRCh38 |
| NC_000008.10:g.118847722del , CM000670.1:g.118847722del | GRCh37 |
| NC_000008.9:g.118916903del | NCBI36 |
| NG_007455.2:g.281338del , LRG_493:g.281338del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.593del | ||
| ENST00000378204.7:c.1126del MANE Select | ENSP00000367446.3:p.Gln376LysfsTer5 | |
| ENST00000436216.2:c.494del | ||
| ENST00000378204.6:c.1126del | ENSP00000367446.2:p.Gln376LysfsTer5 | |
| ENST00000436216.1:c.494del | ||
| ENST00000437196.1:c.*17del | ENSP00000407299.1:n.*17del | |
| NM_000127.2:c.1126del , LRG_493t1:c.1126del | NP_000118.2:p.Gln376LysfsTer5 | |
| NM_000127.3:c.1126del MANE Select | NP_000118.2:p.Gln376LysfsTer5 |