Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878711del , CM000664.2:g.240878711del | GRCh38 |
| NC_000002.11:g.241818128del , CM000664.1:g.241818128del | GRCh37 |
| NC_000002.10:g.241466801del | NCBI36 |
| NG_008005.1:g.14967del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1072-3del MANE Select | ENSP00000302620.3:n.1072-3del | |
| ENST00000307503.3:c.1072-3del | ENSP00000302620.3:n.1072-3del | |
| ENST00000470255.1:n.850-3del | ||
| NM_000030.2:c.1072-3del | NP_000021.1:n.1072-3del | |
| NM_000030.3:c.1072-3del MANE Select | NP_000021.1:n.1072-3del |