Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48494148del , CM000677.2:g.48494148del | GRCh38 |
| NC_000015.9:g.48786345del , CM000677.1:g.48786345del | GRCh37 |
| NC_000015.8:g.46573637del | NCBI36 |
| NG_008805.2:g.156642del , LRG_778:g.156642del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2728+57del | ENSP00000453958.2:n.2728+57del | |
| ENST00000674301.2:c.2728+57del | ENSP00000501333.2:n.2728+57del | |
| ENST00000684448.1:n.1402+57del | ||
| ENST00000316623.10:c.2728+57del MANE Select | ENSP00000325527.5:n.2728+57del | |
| ENST00000316623.9:c.2728+57del | ENSP00000325527.5:n.2728+57del | |
| ENST00000537463.6:c.637-19497del | ENSP00000440294.2:n.637-19497del | |
| NM_000138.4:c.2728+57del , LRG_778t1:c.2728+57del | NP_000129.3:n.2728+57del | |
| NM_000138.5:c.2728+57del MANE Select | NP_000129.3:n.2728+57del |