Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5693874_5693881del , CM000664.2:g.5693874_5693881del | GRCh38 |
| NC_000002.11:g.5834006_5834013del , CM000664.1:g.5834006_5834013del | GRCh37 |
| NC_000002.10:g.5751457_5751464del | NCBI36 |
| NG_050751.1:g.6208_6215del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322002.5:c.1153_1160del MANE Select | ENSP00000322568.3:p.Ala385ArgfsTer10 | |
| ENST00000322002.4:c.1153_1160del | ENSP00000322568.3:p.Ala385ArgfsTer10 | |
| NM_003108.3:c.1153_1160del | NP_003099.1:p.Ala385ArgfsTer10 | |
| NM_003108.4:c.1153_1160del MANE Select | NP_003099.1:p.Ala385ArgfsTer10 |