Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775490_94775507del , CM000672.2:g.94775490_94775507del | GRCh38 |
| NC_000010.10:g.96535247_96535264del , CM000672.1:g.96535247_96535264del | GRCh37 |
| NC_000010.9:g.96525237_96525254del | NCBI36 |
| NG_008384.2:g.17785_17802del | |
| NG_008384.3:g.17810_17827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.432_449del MANE Select | ENSP00000360372.3:p.Val145_Arg150del | |
| ENST00000645461.1:n.1485_1502del | ||
| ENST00000371321.7:c.432_449del | ENSP00000360372.3:p.Val145_Arg150del | |
| ENST00000464755.1:c.1195_1212del | ENSP00000483243.1:n.1195_1212del | |
| ENST00000480405.2:c.432_449del | ENSP00000483847.1:p.Val145_Arg150del | |
| NM_000769.2:c.432_449del | NP_000760.1:p.Val145_Arg150del | |
| NM_000769.4:c.432_449del MANE Select | NP_000760.1:p.Val145_Arg150del |