HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153770210del , CM000685.2:g.153770210del | GRCh38 |
NC_000023.10:g.153035665del , CM000685.1:g.153035665del | GRCh37 |
NC_000023.9:g.152688859del | NCBI36 |
NG_013255.1:g.11015del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361971.10:c.1748del MANE Select | ENSP00000355378.5:p.Pro583LeufsTer22 | |
ENST00000361971.9:c.1748del | ENSP00000355378.5:p.Pro583LeufsTer22 | |
ENST00000538966.5:c.1817del | ENSP00000442736.1:p.Pro606LeufsTer22 | |
NM_001163257.1:c.1817del | NP_001156729.1:p.Pro606LeufsTer22 | |
NM_005393.2:c.1748del | NP_005384.2:p.Pro583LeufsTer22 | |
NM_005393.3:c.1748del MANE Select | NP_005384.2:p.Pro583LeufsTer22 | |
NM_001163257.2:c.1817del | NP_001156729.1:p.Pro606LeufsTer22 |