Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612924_10612992del , CM000670.2:g.10612924_10612992del | GRCh38 |
| NC_000008.10:g.10470434_10470502del , CM000670.1:g.10470434_10470502del | GRCh37 |
| NC_000008.9:g.10507844_10507912del | NCBI36 |
| NG_028035.1:g.47120_47188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1110_1178del MANE Select | ENSP00000371923.3:p.Gly371_Glu393del | |
| ENST00000382483.3:c.1110_1178del | ENSP00000371923.3:p.Gly371_Glu393del | |
| NM_178857.5:c.1110_1178del | NP_849188.4:p.Gly371_Glu393del | |
| NM_178857.6:c.1110_1178del MANE Select | NP_849188.4:p.Gly371_Glu393del |