Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043537_94043540del , CM000663.2:g.94043537_94043540del | GRCh38 |
| NC_000001.10:g.94509093_94509096del , CM000663.1:g.94509093_94509096del | GRCh37 |
| NC_000001.9:g.94281681_94281684del | NCBI36 |
| NG_009073.1:g.82611_82614del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3051-64_3051-61del MANE Select | ENSP00000359245.3:n.3051-64_3051-61del | |
| ENST00000370225.3:c.3051-64_3051-61del | ENSP00000359245.3:n.3051-64_3051-61del | |
| ENST00000536513.5:c.-64-3450_-64-3447del | ENSP00000439707.2:n.-64-3450_-64-3447del | |
| NM_000350.2:c.3051-64_3051-61del | NP_000341.2:n.3051-64_3051-61del | |
| NM_000350.3:c.3051-64_3051-61del MANE Select | NP_000341.2:n.3051-64_3051-61del |