Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874008del , CM000664.2:g.240874008del | GRCh38 |
| NC_000002.11:g.241813425del , CM000664.1:g.241813425del | GRCh37 |
| NC_000002.10:g.241462098del | NCBI36 |
| NG_008005.1:g.10264del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.626del MANE Select | ENSP00000302620.3:p.Lys209ArgfsTer3 | |
| ENST00000307503.3:c.626del | ENSP00000302620.3:p.Lys209ArgfsTer3 | |
| ENST00000476698.1:n.332+959del | ||
| NM_000030.2:c.626del | NP_000021.1:p.Lys209ArgfsTer3 | |
| NM_000030.3:c.626del MANE Select | NP_000021.1:p.Lys209ArgfsTer3 |