Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799798del , CM000666.2:g.24799798del | GRCh38 |
| NC_000004.11:g.24801420del , CM000666.1:g.24801420del | GRCh37 |
| NC_000004.10:g.24410518del | NCBI36 |
| NG_012213.1:g.9336del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.277del MANE Select | ENSP00000371554.3:p.Leu93SerfsTer29 | |
| ENST00000382120.3:c.277del | ENSP00000371554.3:p.Leu93SerfsTer29 | |
| NM_003102.2:c.277del | NP_003093.2:p.Leu93SerfsTer29 | |
| XR_427488.1:n.467del | ||
| NM_003102.3:c.277del | NP_003093.2:p.Leu93SerfsTer29 | |
| NM_003102.4:c.277del MANE Select | NP_003093.2:p.Leu93SerfsTer29 |