Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015608_8015611del , CM000679.2:g.8015608_8015611del | GRCh38 |
| NC_000017.10:g.7918926_7918929del , CM000679.1:g.7918926_7918929del | GRCh37 |
| NC_000017.9:g.7859651_7859654del | NCBI36 |
| NG_009092.1:g.17939_17942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2944+106_2944+109del MANE Select | ENSP00000254854.4:n.2944+106_2944+109del | |
| ENST00000254854.4:c.2944+106_2944+109del | ENSP00000254854.4:n.2944+106_2944+109del | |
| NM_000180.3:c.2944+106_2944+109del | NP_000171.1:n.2944+106_2944+109del | |
| XM_011523816.1:c.2944+106_2944+109del | XP_011522118.1:n.2944+106_2944+109del | |
| NM_000180.4:c.2944+106_2944+109del MANE Select | NP_000171.1:n.2944+106_2944+109del |