Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232538_1232633del , CM000663.2:g.1232538_1232633del | GRCh38 |
| NC_000001.10:g.1167918_1168013del , CM000663.1:g.1167918_1168013del | GRCh37 |
| NC_000001.9:g.1157781_1157876del | NCBI36 |
| NG_030007.1:g.4437_4532del | |
| NG_033265.1:g.5290_5385del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.260_355del MANE Select | ENSP00000368496.2:p.Pro87_Asp118del | |
| ENST00000379198.3:c.260_355del | ENSP00000368496.2:p.Pro87_Asp118del | |
| NM_080605.3:c.260_355del | NP_542172.2:p.Pro87_Asp118del | |
| NM_080605.4:c.260_355del MANE Select | NP_542172.2:p.Pro87_Asp118del |