Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056830_94056833del , CM000663.2:g.94056830_94056833del | GRCh38 |
| NC_000001.10:g.94522386_94522389del , CM000663.1:g.94522386_94522389del | GRCh37 |
| NC_000001.9:g.94294974_94294977del | NCBI36 |
| NG_009073.1:g.69317_69320del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2161-11_2161-8del MANE Select | ENSP00000359245.3:n.2161-11_2161-8del | |
| ENST00000649773.1:c.2161-1518_2161-1515del | ENSP00000496882.1:n.2161-1518_2161-1515del | |
| ENST00000370225.3:c.2161-11_2161-8del | ENSP00000359245.3:n.2161-11_2161-8del | |
| ENST00000536513.5:c.-65+6341_-65+6344del | ENSP00000439707.2:n.-65+6341_-65+6344del | |
| NM_000350.2:c.2161-11_2161-8del | NP_000341.2:n.2161-11_2161-8del | |
| NM_000350.3:c.2161-11_2161-8del MANE Select | NP_000341.2:n.2161-11_2161-8del |