Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465030del , CM000675.2:g.48465030del | GRCh38 |
| NC_000013.10:g.49039166del , CM000675.1:g.49039166del | GRCh37 |
| NC_000013.9:g.47937167del | NCBI36 |
| NG_009009.1:g.166284del , LRG_517:g.166284del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2244del MANE Select | NP_000312.2:p.Glu748AspfsTer6 |
| ENST00000267163.6:c.2244del MANE Select | ENSP00000267163.4:p.Glu748AspfsTer6 |
| NM_000321.2:c.2244del , LRG_517t1:c.2244del | NP_000312.2:p.Glu748AspfsTer6 |
| ENST00000267163.4:c.2244del | ENSP00000267163.4:p.Glu748AspfsTer6 |
| ENST00000643064.1:c.194+83587del | |
| ENST00000650461.1:c.2244del | ENSP00000497193.1:p.Glu748AspfsTer6 |
| XM_011535171.1:c.1983del | XP_011533473.1:p.Glu661AspfsTer6 |
| XM_011535171.2:c.1983del | XP_011533473.1:p.Glu661AspfsTer6 |