Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860507del , CM000685.2:g.154860507del | GRCh38 |
| NC_000023.10:g.154088782del , CM000685.1:g.154088782del | GRCh37 |
| NC_000023.9:g.153741976del | NCBI36 |
| NG_011403.1:g.167217del | |
| NG_011403.2:g.167217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6825del MANE Select | ENSP00000353393.4:p.Tyr2275Ter | |
| ENST00000644698.1:c.558del | ENSP00000495706.1:p.Tyr186Ter | |
| ENST00000330287.10:c.420del | ENSP00000327895.6:p.Tyr140Ter | |
| ENST00000360256.8:c.6825del | ENSP00000353393.4:p.Tyr2275Ter | |
| NM_000132.3:c.6825del | NP_000123.1:p.Tyr2275Ter | |
| NM_019863.2:c.420del | NP_063916.1:p.Tyr140Ter | |
| XM_011531126.1:c.6720del | XP_011529428.1:p.Tyr2240Ter | |
| NM_000132.4:c.6825del MANE Select | NP_000123.1:p.Tyr2275Ter | |
| NM_019863.3:c.420del | NP_063916.1:p.Tyr140Ter |