Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380237del , CM000675.2:g.48380237del | GRCh38 |
| NC_000013.10:g.48954373del , CM000675.1:g.48954373del | GRCh37 |
| NC_000013.9:g.47852374del | NCBI36 |
| NG_009009.1:g.81491del , LRG_517:g.81491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1494del MANE Select | ENSP00000267163.4:p.Tyr498Ter | |
| ENST00000650461.1:c.1494del | ENSP00000497193.1:p.Tyr498Ter | |
| ENST00000267163.4:c.1494del | ENSP00000267163.4:p.Tyr498Ter | |
| NM_000321.2:c.1494del , LRG_517t1:c.1494del | NP_000312.2:p.Tyr498Ter | |
| XM_011535171.1:c.1233del | XP_011533473.1:p.Tyr411Ter | |
| XM_011535171.2:c.1233del | XP_011533473.1:p.Tyr411Ter | |
| NM_000321.3:c.1494del MANE Select | NP_000312.2:p.Tyr498Ter |