Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713741_6713788del , CM000681.2:g.6713741_6713788del | GRCh38 |
| NC_000019.9:g.6713752_6713799del , CM000681.1:g.6713752_6713799del | GRCh37 |
| NC_000019.8:g.6664752_6664799del | NCBI36 |
| NG_009557.1:g.11869_11916del , LRG_27:g.11869_11916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+209_651-227del | ENSP00000512083.1:n.650+209_651-227del | |
| ENST00000245907.11:c.773+209_774-227del MANE Select | ENSP00000245907.4:n.773+209_774-227del | |
| ENST00000245907.10:c.773+209_774-227del | ENSP00000245907.4:n.773+209_774-227del | |
| ENST00000595577.1:n.277+209_278-227del | ||
| ENST00000597442.5:n.6_23+30del | ||
| NM_000064.3:c.773+209_774-227del | NP_000055.2:n.773+209_774-227del | |
| NM_000064.4:c.773+209_774-227del MANE Select | NP_000055.2:n.773+209_774-227del |