Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47840402del , CM000681.2:g.47840402del | GRCh38 |
| NC_000019.9:g.48343659del , CM000681.1:g.48343659del | GRCh37 |
| NC_000019.8:g.53035471del | NCBI36 |
| NG_008605.1:g.23561del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.*435del MANE Select | NP_000545.1:n.*435del |
| ENST00000221996.12:c.*435del MANE Select | ENSP00000221996.5:n.*435del |
| NM_000554.4:c.*435del | NP_000545.1:n.*435del |
| NM_000554.5:c.*435del | NP_000545.1:n.*435del |
| ENST00000221996.11:c.*435del | ENSP00000221996.5:n.*435del |
| ENST00000539067.5:c.*435del | ENSP00000445565.1:n.*435del |
| ENST00000613299.1:c.*1057del | ENSP00000478106.1:n.*1057del |