Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044184_114044186del , CM000672.2:g.114044184_114044186del | GRCh38 |
| NC_000010.10:g.115803943_115803945del , CM000672.1:g.115803943_115803945del | GRCh37 |
| NC_000010.9:g.115793933_115793935del | NCBI36 |
| NG_012187.1:g.5138_5140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.52_54del MANE Select | ENSP00000358301.2:p.Ser18del | |
| ENST00000369295.3:c.52_54del | ENSP00000358301.2:p.Ser18del | |
| NM_000684.2:c.52_54del | NP_000675.1:p.Ser18del | |
| NM_000684.3:c.52_54del MANE Select | NP_000675.1:p.Ser18del |