Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226763_5226765del , CM000673.2:g.5226763_5226765del | GRCh38 |
| NC_000011.9:g.5247993_5247995del , CM000673.1:g.5247993_5247995del | GRCh37 |
| NC_000011.8:g.5204569_5204571del | NCBI36 |
| NG_000007.3:g.70851_70853del | |
| NG_059281.1:g.5307_5309del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.127_129del | ENSP00000494175.1:p.Phe43del | |
| ENST00000335295.4:c.127_129del MANE Select | ENSP00000333994.3:p.Phe43del | |
| ENST00000380315.2:c.127_129del | ENSP00000369671.2:p.Phe43del | |
| ENST00000475226.1:n.59_61del | ||
| ENST00000485743.1:n.178_180del | ||
| ENST00000633227.1:c.111_113del | ENSP00000488004.1:p.Leu38del | |
| NM_000518.4:c.127_129del | NP_000509.1:p.Phe43del | |
| NM_000518.5:c.127_129del MANE Select | NP_000509.1:p.Phe43del |