Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226573_5226574del , CM000673.2:g.5226573_5226574del | GRCh38 |
| NC_000011.9:g.5247803_5247804del , CM000673.1:g.5247803_5247804del | GRCh37 |
| NC_000011.8:g.5204379_5204380del | NCBI36 |
| NG_000007.3:g.71043_71044del | |
| NG_059281.1:g.5499_5500del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+4_315+5del | ENSP00000494175.1:n.315+4_315+5del | |
| ENST00000335295.4:c.315+4_315+5del MANE Select | ENSP00000333994.3:n.315+4_315+5del | |
| ENST00000475226.1:n.247+4_247+5del | ||
| ENST00000485743.1:n.370_371del | ||
| ENST00000633227.1:c.*131+4_*131+5del | ENSP00000488004.1:n.*131+4_*131+5del | |
| NM_000518.4:c.315+4_315+5del | NP_000509.1:n.315+4_315+5del | |
| NM_000518.5:c.315+4_315+5del MANE Select | NP_000509.1:n.315+4_315+5del |