Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175979_70175984del , CM000679.2:g.70175979_70175984del | GRCh38 |
| NC_000017.10:g.68172120_68172125del , CM000679.1:g.68172120_68172125del | GRCh37 |
| NC_000017.9:g.65683715_65683720del | NCBI36 |
| NG_008798.1:g.11445_11450del , LRG_328:g.11445_11450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.940_945del MANE Select | ENSP00000243457.2:p.Ser314_Tyr315del | |
| ENST00000243457.3:c.940_945del | ENSP00000243457.2:p.Ser314_Tyr315del | |
| ENST00000535240.1:c.940_945del | ENSP00000441848.1:p.Ser314_Tyr315del | |
| NM_000891.2:c.940_945del , LRG_328t1:c.940_945del | NP_000882.1:p.Ser314_Tyr315del | |
| XM_011524779.1:c.940_945del | XP_011523081.1:p.Ser314_Tyr315del | |
| NM_000891.3:c.940_945del MANE Select | NP_000882.1:p.Ser314_Tyr315del |