Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48307359del , CM000675.2:g.48307359del | GRCh38 |
| NC_000013.10:g.48881495del , CM000675.1:g.48881495del | GRCh37 |
| NC_000013.9:g.47779496del | NCBI36 |
| NG_009009.1:g.8613del , LRG_517:g.8613del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.217del MANE Select | ENSP00000267163.4:p.Arg73GlufsTer4 | |
| ENST00000646097.1:c.217del | ENSP00000496556.1:p.Arg73GlufsTer4 | |
| ENST00000650461.1:c.217del | ENSP00000497193.1:p.Arg73GlufsTer4 | |
| ENST00000267163.4:c.217del | ENSP00000267163.4:p.Arg73GlufsTer4 | |
| ENST00000467505.5:c.137+3310del | ENSP00000434702.1:n.137+3310del | |
| ENST00000525036.1:n.379del | ||
| NM_000321.2:c.217del , LRG_517t1:c.217del | NP_000312.2:p.Arg73GlufsTer4 | |
| NM_000321.3:c.217del MANE Select | NP_000312.2:p.Arg73GlufsTer4 |