Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286386_47286387del , CM000679.2:g.47286386_47286387del | GRCh38 |
| NC_000017.10:g.45363752_45363753del , CM000679.1:g.45363752_45363753del | GRCh37 |
| NC_000017.9:g.42718751_42718752del | NCBI36 |
| NG_008332.2:g.37545_37546del , LRG_481:g.37545_37546del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.741_742del | ENSP00000513002.1:p.Gly248LeufsTer2 | |
| ENST00000559488.7:c.741_742del MANE Select | ENSP00000452786.2:p.Gly248LeufsTer2 | |
| ENST00000559488.5:c.741_742del | ENSP00000452786.1:p.Gly248LeufsTer2 | |
| ENST00000560629.1:c.706_707del | ||
| ENST00000571680.1:c.741_742del | ENSP00000461626.1:p.Gly248LeufsTer2 | |
| NM_000212.2:c.741_742del , LRG_481t1:c.741_742del | NP_000203.2:p.Gly248LeufsTer2 | |
| NM_000212.3:c.741_742del MANE Select | NP_000203.2:p.Gly248LeufsTer2 |