Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015961_8015962del , CM000679.2:g.8015961_8015962del | GRCh38 |
| NC_000017.10:g.7919279_7919280del , CM000679.1:g.7919279_7919280del | GRCh37 |
| NC_000017.9:g.7860004_7860005del | NCBI36 |
| NG_009092.1:g.18292_18293del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.3078_3079del MANE Select | NP_000171.1:p.Ile1027SerfsTer? |
| ENST00000254854.5:c.3078_3079del MANE Select | ENSP00000254854.4:p.Ile1027SerfsTer? |
| NM_000180.3:c.3078_3079del | NP_000171.1:p.Ile1027SerfsTer? |
| ENST00000254854.4:c.3078_3079del | ENSP00000254854.4:p.Ile1027SerfsTer? |
| XM_011523816.1:c.3078_3079del | XP_011522118.1:p.Ile1027SerfsTer? |