Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957121_154957127del , CM000685.2:g.154957121_154957127del | GRCh38 |
| NC_000023.10:g.154185396_154185402del , CM000685.1:g.154185396_154185402del | GRCh37 |
| NC_000023.9:g.153838590_153838596del | NCBI36 |
| NG_011403.1:g.70597_70603del | |
| NG_011403.2:g.70597_70603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1582_1588del MANE Select | ENSP00000353393.4:p.Phe528IlefsTer5 | |
| ENST00000647125.1:c.*1458_*1464del | ENSP00000496062.1:n.*1458_*1464del | |
| ENST00000360256.8:c.1582_1588del | ENSP00000353393.4:p.Phe528IlefsTer5 | |
| NM_000132.3:c.1582_1588del | NP_000123.1:p.Phe528IlefsTer5 | |
| XM_011531126.1:c.1477_1483del | XP_011529428.1:p.Phe493IlefsTer5 | |
| NM_000132.4:c.1582_1588del MANE Select | NP_000123.1:p.Phe528IlefsTer5 |