Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767488_28767514del , CM000676.2:g.28767488_28767514del | GRCh38 |
| NC_000014.8:g.29236694_29236720del , CM000676.1:g.29236694_29236720del | GRCh37 |
| NC_000014.7:g.28306445_28306471del | NCBI36 |
| NG_009367.1:g.5408_5434del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.209_235del MANE Select | NP_005240.3:p.Gln70_Pro78del |
| ENST00000313071.7:c.209_235del MANE Select | ENSP00000339004.3:p.Gln70_Pro78del |
| NM_005249.4:c.209_235del | NP_005240.3:p.Gln70_Pro78del |
| ENST00000313071.6:c.209_235del | ENSP00000339004.3:p.Gln70_Pro78del |
| ENST00000706482.1:c.209_235del | ENSP00000516406.1:p.Gln70_Pro78del |