Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408921_38408922del , CM000685.2:g.38408921_38408922del | GRCh38 |
| NC_000023.10:g.38268174_38268175del , CM000685.1:g.38268174_38268175del | GRCh37 |
| NC_000023.9:g.38153118_38153119del | NCBI36 |
| NG_008471.1:g.61439_61440del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.763_764del MANE Select | ENSP00000039007.4:p.His255TrpfsTer? | |
| ENST00000643344.1:c.*513_*514del | ENSP00000496606.1:n.*513_*514del | |
| ENST00000039007.4:c.763_764del | ENSP00000039007.4:p.His255TrpfsTer? | |
| ENST00000465127.1:c.172-257200_172-257199del | ENSP00000417050.1:n.172-257200_172-257199del | |
| NM_000531.5:c.763_764del | NP_000522.3:p.His255TrpfsTer? | |
| XM_017029556.1:c.763_764del | XP_016885045.1:p.His255TrpfsTer? | |
| NM_000531.6:c.763_764del MANE Select | NP_000522.3:p.His255TrpfsTer? |