Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189002999_189003025del , CM000664.2:g.189002999_189003025del | GRCh38 |
| NC_000002.11:g.189867725_189867751del , CM000664.1:g.189867725_189867751del | GRCh37 |
| NC_000002.10:g.189575970_189575996del | NCBI36 |
| NG_007404.1:g.33627_33653del , LRG_3:g.33627_33653del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.2391_2417del | ENSP00000415346.2:p.Gly798_Pro806del | |
| ENST00000304636.9:c.2490_2516del MANE Select | ENSP00000304408.4:p.Gly831_Pro839del | |
| ENST00000304636.7:c.2490_2516del | ENSP00000304408.3:p.Gly831_Pro839del | |
| ENST00000317840.9:c.2490_2516del | ENSP00000315243.6:p.Gly831_Pro839del | |
| NM_000090.3:c.2490_2516del , LRG_3t1:c.2490_2516del | NP_000081.1:p.Gly831_Pro839del | |
| NM_000090.4:c.2490_2516del MANE Select | NP_000081.2:p.Gly831_Pro839del |