Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843708_40843748del , CM000681.2:g.40843708_40843748del | GRCh38 |
| NC_000019.9:g.41349613_41349653del , CM000681.1:g.41349613_41349653del | GRCh37 |
| NC_000019.8:g.46041453_46041493del | NCBI36 |
| NG_008377.1:g.11700_11740del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.*48_*88del MANE Select | ENSP00000301141.4:n.*48_*88del | |
| ENST00000301141.9:c.*48_*88del | ENSP00000301141.4:n.*48_*88del | |
| ENST00000599960.1:n.452_492del | ||
| ENST00000601627.1:c.119+42293_119+42333del | ||
| NM_000762.5:c.*48_*88del | NP_000753.3:n.*48_*88del | |
| NM_000762.6:c.*48_*88del MANE Select | NP_000753.3:n.*48_*88del |