Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129569del , CM000664.2:g.208129569del | GRCh38 |
| NC_000002.11:g.208994293del , CM000664.1:g.208994293del | GRCh37 |
| NC_000002.10:g.208702538del | NCBI36 |
| NG_008038.1:g.5262del | |
| NG_008039.1:g.21del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.124del MANE Select | ENSP00000282141.3:p.Cys42AlafsTer? | |
| ENST00000282141.3:c.124del | ENSP00000282141.3:p.Cys42AlafsTer? | |
| NM_020989.3:c.124del | NP_066269.1:p.Cys42AlafsTer? | |
| NR_038437.1:n.98-7487del | ||
| XM_011510661.1:c.124del | XP_011508963.1:p.Cys42AlafsTer? | |
| XM_011510662.1:c.124del | XP_011508964.1:p.Cys42AlafsTer? | |
| XM_011510663.1:c.-6del | XP_011508965.1:n.-6del | |
| NM_020989.4:c.124del MANE Select | NP_066269.1:p.Cys42AlafsTer? |