Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226664_5226666del , CM000673.2:g.5226664_5226666del | GRCh38 |
| NC_000011.9:g.5247894_5247896del , CM000673.1:g.5247894_5247896del | GRCh37 |
| NC_000011.8:g.5204470_5204472del | NCBI36 |
| NG_000007.3:g.70950_70952del | |
| NG_059281.1:g.5406_5408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.226_228del | ENSP00000494175.1:p.Leu76del | |
| ENST00000335295.4:c.226_228del MANE Select | ENSP00000333994.3:p.Leu76del | |
| ENST00000380315.2:c.226_228del | ENSP00000369671.2:p.Leu76del | |
| ENST00000475226.1:n.158_160del | ||
| ENST00000485743.1:n.277_279del | ||
| ENST00000633227.1:c.*42_*44del | ENSP00000488004.1:n.*42_*44del | |
| NM_000518.4:c.226_228del | NP_000509.1:p.Leu76del | |
| NM_000518.5:c.226_228del MANE Select | NP_000509.1:p.Leu76del |