Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256653_3256655del , CM000666.2:g.3256653_3256655del | GRCh38 |
| NC_000004.11:g.3258380_3258382del , CM000666.1:g.3258380_3258382del | GRCh37 |
| NC_000004.10:g.3228178_3228180del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+796_729+798del | ENSP00000425405.1:n.729+796_729+798del | |
| ENST00000510580.1:c.765+760_765+762del | ENSP00000420966.1:n.765+760_765+762del | |
| XM_011513464.1:c.729+796_729+798del | XP_011511766.1:n.729+796_729+798del | |
| XR_924950.1:n.753+796_753+798del |