Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530179_7530212del , CM000681.2:g.7530179_7530212del | GRCh38 |
| NC_000019.9:g.7595065_7595098del , CM000681.1:g.7595065_7595098del | GRCh37 |
| NC_000019.8:g.7501065_7501098del | NCBI36 |
| NG_013374.1:g.1028_1061del | |
| NG_015806.1:g.12570_12603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-107_1360-74del MANE Select | ENSP00000264079.5:n.1360-107_1360-74del | |
| ENST00000264079.10:c.1360-107_1360-74del | ENSP00000264079.5:n.1360-107_1360-74del | |
| ENST00000394321.9:n.1675-107_1675-74del | ||
| ENST00000594692.1:n.356-107_356-74del | ||
| ENST00000595860.5:n.543-107_543-74del | ||
| ENST00000599334.1:c.237-256_237-223del | ||
| NM_020533.2:c.1360-107_1360-74del | NP_065394.1:n.1360-107_1360-74del | |
| NM_020533.3:c.1360-107_1360-74del MANE Select | NP_065394.1:n.1360-107_1360-74del |