Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189315del , CM000675.2:g.20189315del | GRCh38 |
| NC_000013.10:g.20763454del , CM000675.1:g.20763454del | GRCh37 |
| NC_000013.9:g.19661454del | NCBI36 |
| NG_008358.1:g.8662del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.268del | ENSP00000372295.1:p.Leu90Ter | |
| ENST00000382848.5:c.268del MANE Select | ENSP00000372299.4:p.Leu90Ter | |
| ENST00000382844.1:c.268del | ENSP00000372295.1:p.Leu90Ter | |
| ENST00000382848.4:c.268del | ENSP00000372299.4:p.Leu90Ter | |
| NM_004004.5:c.268del | NP_003995.2:p.Leu90Ter | |
| XM_011535049.1:c.268del | XP_011533351.1:p.Leu90Ter | |
| XM_011535049.2:c.268del | XP_011533351.1:p.Leu90Ter | |
| NM_004004.6:c.268del MANE Select | NP_003995.2:p.Leu90Ter |