Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74685487_74685489del , CM000671.2:g.74685487_74685489del | GRCh38 |
| NC_000009.11:g.77300403_77300405del , CM000671.1:g.77300403_77300405del | GRCh37 |
| NC_000009.10:g.76490223_76490225del | NCBI36 |
| NG_046926.2:g.193152_193154del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006914.4:c.1249_1251del MANE Select | NP_008845.2:p.Thr417del |
| ENST00000376896.8:c.1249_1251del MANE Select | ENSP00000366093.2:p.Thr417del |
| NM_001365023.1:c.1282_1284del | NP_001351952.1:p.Thr428del |
| NM_006914.3:c.1249_1251del | NP_008845.2:p.Thr417del |
| ENST00000376896.7:c.1249_1251del | ENSP00000366093.2:p.Thr417del |
| ENST00000396204.2:c.1282_1284del | ENSP00000379507.2:p.Thr428del |