Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813988_129814005del , CM000671.2:g.129813988_129814005del | GRCh38 |
| NC_000009.11:g.132576267_132576284del , CM000671.1:g.132576267_132576284del | GRCh37 |
| NC_000009.10:g.131616088_131616105del | NCBI36 |
| NG_008049.1:g.15158_15175del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.966_983del MANE Select | ENSP00000345719.4:p.Phe323_Tyr328del | |
| ENST00000651202.1:c.*234_*251del | ENSP00000498222.1:n.*234_*251del | |
| ENST00000351698.4:c.966_983del | ENSP00000345719.4:p.Phe323_Tyr328del | |
| ENST00000474192.1:n.550_567del | ||
| NM_000113.2:c.966_983del | NP_000104.1:p.Phe323_Tyr328del | |
| XR_929731.3:n.1161_1178del | ||
| NM_000113.3:c.966_983del MANE Select | NP_000104.1:p.Phe323_Tyr328del |