Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107159_91107161del , CM000674.2:g.91107159_91107161del | GRCh38 |
| NC_000012.11:g.91500936_91500938del , CM000674.1:g.91500936_91500938del | GRCh37 |
| NC_000012.10:g.90025067_90025069del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+959_862+961del MANE Select | ENSP00000266718.4:n.862+959_862+961del | |
| ENST00000266718.4:c.862+959_862+961del | ENSP00000266718.4:n.862+959_862+961del | |
| ENST00000546642.1:n.612+959_612+961del | ||
| ENST00000548071.1:n.255+959_255+961del | ||
| NM_002345.3:c.862+959_862+961del | NP_002336.1:n.862+959_862+961del | |
| NM_002345.4:c.862+959_862+961del MANE Select | NP_002336.1:n.862+959_862+961del |