Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041507_94041510del , CM000663.2:g.94041507_94041510del | GRCh38 |
| NC_000001.10:g.94507063_94507066del , CM000663.1:g.94507063_94507066del | GRCh37 |
| NC_000001.9:g.94279651_94279654del | NCBI36 |
| NG_009073.1:g.84641_84644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-107_3329-104del MANE Select | ENSP00000359245.3:n.3329-107_3329-104del | |
| ENST00000370225.3:c.3329-107_3329-104del | ENSP00000359245.3:n.3329-107_3329-104del | |
| ENST00000536513.5:c.-64-1420_-64-1417del | ENSP00000439707.2:n.-64-1420_-64-1417del | |
| NM_000350.2:c.3329-107_3329-104del | NP_000341.2:n.3329-107_3329-104del | |
| NM_000350.3:c.3329-107_3329-104del MANE Select | NP_000341.2:n.3329-107_3329-104del |