Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042964_94042966del , CM000663.2:g.94042964_94042966del | GRCh38 |
| NC_000001.10:g.94508520_94508522del , CM000663.1:g.94508520_94508522del | GRCh37 |
| NC_000001.9:g.94281108_94281110del | NCBI36 |
| NG_009073.1:g.83184_83186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3191-68_3191-66del MANE Select | ENSP00000359245.3:n.3191-68_3191-66del | |
| ENST00000370225.3:c.3191-68_3191-66del | ENSP00000359245.3:n.3191-68_3191-66del | |
| ENST00000536513.5:c.-64-2877_-64-2875del | ENSP00000439707.2:n.-64-2877_-64-2875del | |
| NM_000350.2:c.3191-68_3191-66del | NP_000341.2:n.3191-68_3191-66del | |
| NM_000350.3:c.3191-68_3191-66del MANE Select | NP_000341.2:n.3191-68_3191-66del |