Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422047_74422060del , CM000685.2:g.74422047_74422060del | GRCh38 |
| NC_000023.10:g.73641882_73641895del , CM000685.1:g.73641882_73641895del | GRCh37 |
| NC_000023.9:g.73558607_73558620del | NCBI36 |
| NG_011641.1:g.5798_5811del | |
| NG_011641.2:g.5798_5811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.410_423del MANE Select | ENSP00000465734.1:p.Arg137ProfsTer25 | |
| ENST00000636771.1:c.156_169del | ||
| ENST00000587091.5:c.410_423del | ENSP00000465734.1:p.Arg137ProfsTer25 | |
| NM_006517.4:c.410_423del | NP_006508.2:p.Arg137ProfsTer25 | |
| XM_005262294.1:c.410_423del | XP_005262351.1:p.Arg137ProfsTer25 | |
| XM_011531015.1:c.410_423del | XP_011529317.1:p.Arg137ProfsTer25 | |
| NM_006517.5:c.410_423del MANE Select | NP_006508.2:p.Arg137ProfsTer25 |