Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381270del , CM000675.2:g.48381270del | GRCh38 |
| NC_000013.10:g.48955406del , CM000675.1:g.48955406del | GRCh37 |
| NC_000013.9:g.47853407del | NCBI36 |
| NG_009009.1:g.82524del , LRG_517:g.82524del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1522del MANE Select | ENSP00000267163.4:p.Ser508LeufsTer11 | |
| ENST00000643064.1:c.21del | ||
| ENST00000650461.1:c.1522del | ENSP00000497193.1:p.Ser508LeufsTer11 | |
| ENST00000267163.4:c.1522del | ENSP00000267163.4:p.Ser508LeufsTer11 | |
| NM_000321.2:c.1522del , LRG_517t1:c.1522del | NP_000312.2:p.Ser508LeufsTer11 | |
| XM_011535171.1:c.1261del | XP_011533473.1:p.Ser421LeufsTer11 | |
| XM_011535171.2:c.1261del | XP_011533473.1:p.Ser421LeufsTer11 | |
| NM_000321.3:c.1522del MANE Select | NP_000312.2:p.Ser508LeufsTer11 |