Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427643del , CM000669.2:g.94427643del | GRCh38 |
| NC_000007.13:g.94056955del , CM000669.1:g.94056955del | GRCh37 |
| NC_000007.12:g.93894891del | NCBI36 |
| NG_007405.1:g.38083del , LRG_2:g.38083del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.3284del MANE Select | ENSP00000297268.6:p.Pro1095LeufsTer9 | |
| ENST00000297268.10:c.3284del | ENSP00000297268.6:p.Pro1095LeufsTer9 | |
| ENST00000464916.1:n.332del | ||
| ENST00000481570.5:n.4065del | ||
| ENST00000620463.1:c.3278del | ENSP00000477719.1:p.Pro1093LeufsTer9 | |
| NM_000089.3:c.3284del , LRG_2t1:c.3284del | NP_000080.2:p.Pro1095LeufsTer9 | |
| NM_000089.4:c.3284del MANE Select | NP_000080.2:p.Pro1095LeufsTer9 |