Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154929669_154929672del , CM000685.2:g.154929669_154929672del | GRCh38 |
| NC_000023.10:g.154157944_154157947del , CM000685.1:g.154157944_154157947del | GRCh37 |
| NC_000023.9:g.153811138_153811141del | NCBI36 |
| NG_011403.1:g.98055_98058del | |
| NG_011403.2:g.98055_98058del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.4121_4124del MANE Select | NP_000123.1:p.Ile1374ThrfsTer? |
| ENST00000360256.9:c.4121_4124del MANE Select | ENSP00000353393.4:p.Ile1374ThrfsTer? |
| NM_000132.3:c.4121_4124del | NP_000123.1:p.Ile1374ThrfsTer? |
| ENST00000360256.8:c.4121_4124del | ENSP00000353393.4:p.Ile1374ThrfsTer? |
| XM_011531126.1:c.4016_4019del | XP_011529428.1:p.Ile1339ThrfsTer? |