Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30338894del , CM000684.2:g.30338894del | GRCh38 |
| NC_000022.10:g.30734883del , CM000684.1:g.30734883del | GRCh37 |
| NC_000022.9:g.29064883del | NCBI36 |
| NG_032902.1:g.23034del , LRG_622:g.23034del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005877.6:c.1641del MANE Select | NP_005868.1:p.Ser548AlafsTer? |
| ENST00000215793.13:c.1641del MANE Select | ENSP00000215793.7:p.Ser548AlafsTer? |
| NM_005877.5:c.1641del | NP_005868.1:p.Ser548AlafsTer? |
| ENST00000215793.12:c.1641del | ENSP00000215793.7:p.Ser548AlafsTer? |
| ENST00000411423.1:c.*140del | ENSP00000412715.1:n.*140del |
| ENST00000444440.1:c.594del | ENSP00000400862.1:p.Ser199AlafsTer? |
| ENST00000485618.1:n.542del |