ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024027del , CM000663.2:g.17024027del | GRCh38 |
| NC_000001.10:g.17350522del , CM000663.1:g.17350522del | GRCh37 |
| NC_000001.9:g.17223109del | NCBI36 |
| NG_012340.1:g.35147del , LRG_316:g.35147del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.420del | ENSP00000481376.2:p.Ser141AlafsTer22 | |
| ENST00000491274.6:c.549del | ENSP00000480482.2:p.Ser184AlafsTer22 | |
| ENST00000375499.8:c.591del MANE Select | ENSP00000364649.3:p.Ser198AlafsTer22 | |
| ENST00000375499.7:c.591del | ENSP00000364649.3:p.Ser198AlafsTer22 | |
| ENST00000485515.5:n.525del | ||
| ENST00000491274.5:c.549del | ENSP00000480482.1:p.Ser184AlafsTer? | |
| NM_003000.2:c.591del , LRG_316t1:c.591del | NP_002991.2:p.Ser198AlafsTer22 | |
| NM_003000.3:c.591del MANE Select | NP_002991.2:p.Ser198AlafsTer22 |