Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648129del , CM000673.2:g.69648129del | GRCh38 |
| NC_000011.9:g.69462897del , CM000673.1:g.69462897del | GRCh37 |
| NC_000011.8:g.69172078del | NCBI36 |
| NG_007375.1:g.12025del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.710del MANE Select | ENSP00000227507.2:p.Ile237ThrfsTer? | |
| ENST00000227507.2:c.710del | ENSP00000227507.2:p.Ile237ThrfsTer? | |
| ENST00000536559.1:c.*130del | ENSP00000438482.1:n.*130del | |
| ENST00000542367.1:n.173del | ||
| ENST00000545484.1:n.416del | ||
| NM_053056.2:c.710del | NP_444284.1:p.Ile237ThrfsTer? | |
| XM_006718653.2:c.734del | XP_006718716.1:p.Ile245ThrfsTer? | |
| NM_053056.3:c.710del MANE Select | NP_444284.1:p.Ile237ThrfsTer? |