Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530168_7530200del , CM000681.2:g.7530168_7530200del | GRCh38 |
| NC_000019.9:g.7595054_7595086del , CM000681.1:g.7595054_7595086del | GRCh37 |
| NC_000019.8:g.7501054_7501086del | NCBI36 |
| NG_013374.1:g.1017_1049del | |
| NG_015806.1:g.12559_12591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-118_1360-86del MANE Select | ENSP00000264079.5:n.1360-118_1360-86del | |
| ENST00000264079.10:c.1360-118_1360-86del | ENSP00000264079.5:n.1360-118_1360-86del | |
| ENST00000394321.9:n.1675-118_1675-86del | ||
| ENST00000594692.1:n.356-118_356-86del | ||
| ENST00000595860.5:n.543-118_543-86del | ||
| ENST00000599334.1:c.237-267_237-235del | ||
| NM_020533.2:c.1360-118_1360-86del | NP_065394.1:n.1360-118_1360-86del | |
| NM_020533.3:c.1360-118_1360-86del MANE Select | NP_065394.1:n.1360-118_1360-86del |