Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232535_1232630del , CM000663.2:g.1232535_1232630del | GRCh38 |
| NC_000001.10:g.1167915_1168010del , CM000663.1:g.1167915_1168010del | GRCh37 |
| NC_000001.9:g.1157778_1157873del | NCBI36 |
| NG_030007.1:g.4443_4538del | |
| NG_033265.1:g.5287_5382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.257_352del MANE Select | ENSP00000368496.2:p.Ala86_Gly117del | |
| ENST00000379198.3:c.257_352del | ENSP00000368496.2:p.Ala86_Gly117del | |
| NM_080605.3:c.257_352del | NP_542172.2:p.Ala86_Gly117del | |
| NM_080605.4:c.257_352del MANE Select | NP_542172.2:p.Ala86_Gly117del |