Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74531407_74531414del , CM000685.2:g.74531407_74531414del | GRCh38 |
| NC_000023.10:g.73751242_73751249del , CM000685.1:g.73751242_73751249del | GRCh37 |
| NC_000023.9:g.73667967_73667974del | NCBI36 |
| NG_011641.1:g.115158_115165del | |
| NG_011641.2:g.115158_115165del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587091.6:c.1474_1481del MANE Select | ENSP00000465734.1:p.Val492LeufsTer22 | |
| ENST00000636771.1:c.1383_1390del | ||
| ENST00000587091.5:c.1474_1481del | ENSP00000465734.1:p.Val492LeufsTer22 | |
| ENST00000590447.1:c.685_692del | ||
| NM_006517.4:c.1474_1481del | NP_006508.2:p.Val492LeufsTer22 | |
| XM_005262294.1:c.1245_*4del | XP_005262351.1:n.[c.1245_*4del;Ter416Phee... | |
| NM_006517.5:c.1474_1481del MANE Select | NP_006508.2:p.Val492LeufsTer22 |