Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445263_2445285del , CM000673.2:g.2445263_2445285del | GRCh38 |
| NC_000011.9:g.2466493_2466515del , CM000673.1:g.2466493_2466515del | GRCh37 |
| NC_000011.8:g.2423069_2423091del | NCBI36 |
| NG_008935.1:g.5273_5295del , LRG_287:g.5273_5295del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.24-120_24-98del | ENSP00000434560.2:n.24-120_24-98del | |
| ENST00000646564.2:c.165_187del | ENSP00000495806.2:p.Gly57CysfsTer? | |
| ENST00000155840.12:c.165_187del MANE Select | ENSP00000155840.2:p.Gly57CysfsTer? | |
| ENST00000155840.9:c.165_187del | ENSP00000155840.2:p.Gly57CysfsTer? | |
| ENST00000496887.6:c.24-120_24-98del | ENSP00000434560.1:n.24-120_24-98del | |
| NM_000218.2:c.165_187del , LRG_287t1:c.165_187del | NP_000209.2:p.Gly57CysfsTer? | |
| NM_000218.3:c.165_187del MANE Select | NP_000209.2:p.Gly57CysfsTer? |