Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530204_7530248del , CM000681.2:g.7530204_7530248del | GRCh38 |
| NC_000019.9:g.7595090_7595134del , CM000681.1:g.7595090_7595134del | GRCh37 |
| NC_000019.8:g.7501090_7501134del | NCBI36 |
| NG_013374.1:g.1053_1097del | |
| NG_015806.1:g.12595_12639del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-82_1360-38del MANE Select | ENSP00000264079.5:n.1360-82_1360-38del | |
| ENST00000264079.10:c.1360-82_1360-38del | ENSP00000264079.5:n.1360-82_1360-38del | |
| ENST00000394321.9:n.1675-82_1675-38del | ||
| ENST00000594692.1:n.356-82_356-38del | ||
| ENST00000595860.5:n.543-82_543-38del | ||
| ENST00000599334.1:c.237-231_237-187del | ||
| NM_020533.2:c.1360-82_1360-38del | NP_065394.1:n.1360-82_1360-38del | |
| NM_020533.3:c.1360-82_1360-38del MANE Select | NP_065394.1:n.1360-82_1360-38del |