Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767513_28767608del , CM000676.2:g.28767513_28767608del | GRCh38 |
| NC_000014.8:g.29236719_29236814del , CM000676.1:g.29236719_29236814del | GRCh37 |
| NC_000014.7:g.28306470_28306565del | NCBI36 |
| NG_009367.1:g.5433_5528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.234_329del | ENSP00000516406.1:p.Pro79_Pro110del | |
| ENST00000313071.7:c.234_329del MANE Select | ENSP00000339004.3:p.Pro79_Pro110del | |
| ENST00000313071.6:c.234_329del | ENSP00000339004.3:p.Pro79_Pro110del | |
| NM_005249.4:c.234_329del | NP_005240.3:p.Pro79_Pro110del | |
| NM_005249.5:c.234_329del MANE Select | NP_005240.3:p.Pro79_Pro110del |