Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154930161del , CM000685.2:g.154930161del | GRCh38 |
| NC_000023.10:g.154158436del , CM000685.1:g.154158436del | GRCh37 |
| NC_000023.9:g.153811630del | NCBI36 |
| NG_011403.1:g.97571del | |
| NG_011403.2:g.97571del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.3637del MANE Select | NP_000123.1:p.Ile1213PhefsTer5 |
| ENST00000360256.9:c.3637del MANE Select | ENSP00000353393.4:p.Ile1213PhefsTer5 |
| NM_000132.3:c.3637del | NP_000123.1:p.Ile1213PhefsTer5 |
| ENST00000360256.8:c.3637del | ENSP00000353393.4:p.Ile1213PhefsTer5 |
| ENST00000647125.1:c.*3303del | ENSP00000496062.1:n.*3303del |
| XM_011531126.1:c.3532del | XP_011529428.1:p.Ile1178PhefsTer5 |