Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685558del , CM000667.2:g.74685558del | GRCh38 |
| NC_000005.9:g.73981383del , CM000667.1:g.73981383del | GRCh37 |
| NC_000005.8:g.74017139del | NCBI36 |
| NG_009770.1:g.5415del | |
| NG_009770.2:g.50536del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.298del MANE Select | NP_000512.2:p.Arg100AspfsTer? |
| ENST00000261416.12:c.298del MANE Select | ENSP00000261416.7:p.Arg100AspfsTer? |
| NM_000521.3:c.298del | NP_000512.1:p.Arg100AspfsTer? |
| NM_001292004.1:c.-376-3770del | NP_001278933.1:n.-376-3770del |
| NM_001292004.2:c.-376-3770del | NP_001278933.1:n.-376-3770del |
| ENST00000261416.11:c.298del | ENSP00000261416.7:p.Arg100AspfsTer? |
| ENST00000511181.5:c.-376-3770del | ENSP00000426285.1:n.-376-3770del |
| ENST00000513079.5:n.363del | |
| ENST00000515528.1:n.353del |