Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713627_6713674del , CM000681.2:g.6713627_6713674del | GRCh38 |
| NC_000019.9:g.6713638_6713685del , CM000681.1:g.6713638_6713685del | GRCh37 |
| NC_000019.8:g.6664638_6664685del | NCBI36 |
| NG_009557.1:g.11983_12030del , LRG_27:g.11983_12030del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-160_651-113del | ENSP00000512083.1:n.651-160_651-113del | |
| ENST00000245907.11:c.774-160_774-113del MANE Select | ENSP00000245907.4:n.774-160_774-113del | |
| ENST00000245907.10:c.774-160_774-113del | ENSP00000245907.4:n.774-160_774-113del | |
| ENST00000595577.1:n.278-160_278-113del | ||
| ENST00000597442.5:n.23+97_24-113del | ||
| NM_000064.3:c.774-160_774-113del | NP_000055.2:n.774-160_774-113del | |
| NM_000064.4:c.774-160_774-113del MANE Select | NP_000055.2:n.774-160_774-113del |