Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011127_94011217del , CM000663.2:g.94011127_94011217del | GRCh38 |
| NC_000001.10:g.94476683_94476773del , CM000663.1:g.94476683_94476773del | GRCh37 |
| NC_000001.9:g.94249271_94249361del | NCBI36 |
| NG_009073.1:g.114939_115029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5584+51_5584+141del MANE Select | ENSP00000359245.3:n.5584+51_5584+141del | |
| ENST00000370225.3:c.5584+51_5584+141del | ENSP00000359245.3:n.5584+51_5584+141del | |
| ENST00000536513.5:c.1960+51_1960+141del | ENSP00000439707.2:n.1960+51_1960+141del | |
| NM_000350.2:c.5584+51_5584+141del | NP_000341.2:n.5584+51_5584+141del | |
| NM_000350.3:c.5584+51_5584+141del MANE Select | NP_000341.2:n.5584+51_5584+141del |