Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64191698_64191713del , CM000685.2:g.64191698_64191713del | GRCh38 |
| NC_000023.10:g.63411578_63411593del , CM000685.1:g.63411578_63411593del | GRCh37 |
| NC_000023.9:g.63328303_63328318del | NCBI36 |
| NG_021345.1:g.19033_19048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1575_1590del MANE Select | ENSP00000364003.4:p.Tyr526GlufsTer10 | |
| ENST00000330258.3:c.1575_1590del | ENSP00000329117.3:p.Tyr526GlufsTer10 | |
| ENST00000374869.7:c.1575_1590del | ENSP00000364003.3:p.Tyr526GlufsTer10 | |
| NM_152424.3:c.1575_1590del | NP_689637.3:p.Tyr526GlufsTer10 | |
| XM_011530858.1:c.1575_1590del | XP_011529160.1:p.Tyr526GlufsTer10 | |
| NM_152424.4:c.1575_1590del MANE Select | NP_689637.3:p.Tyr526GlufsTer10 |