Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047154_94047161del , CM000663.2:g.94047154_94047161del | GRCh38 |
| NC_000001.10:g.94512710_94512717del , CM000663.1:g.94512710_94512717del | GRCh37 |
| NC_000001.9:g.94285298_94285305del | NCBI36 |
| NG_009073.1:g.78990_78997del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2744-67_2744-60del MANE Select | ENSP00000359245.3:n.2744-67_2744-60del | |
| ENST00000649773.1:c.2522-67_2522-60del | ENSP00000496882.1:n.2522-67_2522-60del | |
| ENST00000370225.3:c.2744-67_2744-60del | ENSP00000359245.3:n.2744-67_2744-60del | |
| ENST00000536513.5:c.-64-7071_-64-7064del | ENSP00000439707.2:n.-64-7071_-64-7064del | |
| NM_000350.2:c.2744-67_2744-60del | NP_000341.2:n.2744-67_2744-60del | |
| NM_000350.3:c.2744-67_2744-60del MANE Select | NP_000341.2:n.2744-67_2744-60del |