Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226377_5226379del , CM000673.2:g.5226377_5226379del | GRCh38 |
| NC_000011.9:g.5247607_5247609del , CM000673.1:g.5247607_5247609del | GRCh37 |
| NC_000011.8:g.5204183_5204185del | NCBI36 |
| NG_000007.3:g.71238_71240del | |
| NG_059281.1:g.5694_5696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+199_315+201del | ENSP00000494175.1:n.315+199_315+201del | |
| ENST00000335295.4:c.315+199_315+201del MANE Select | ENSP00000333994.3:n.315+199_315+201del | |
| ENST00000475226.1:n.247+199_247+201del | ||
| ENST00000485743.1:n.565_567del | ||
| ENST00000633227.1:c.*131+199_*131+201del | ENSP00000488004.1:n.*131+199_*131+201del | |
| NM_000518.4:c.315+199_315+201del | NP_000509.1:n.315+199_315+201del | |
| NM_000518.5:c.315+199_315+201del MANE Select | NP_000509.1:n.315+199_315+201del |