HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887392_43887429del , CM000664.2:g.43887392_43887429del | GRCh38 |
NC_000002.11:g.44114531_44114568del , CM000664.1:g.44114531_44114568del | GRCh37 |
NC_000002.10:g.43968035_43968072del | NCBI36 |
NG_008247.1:g.113581_113618del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2127_2164del | ||
ENST00000684454.1:n.9224_9261del | ||
ENST00000260665.12:c.*1175_*1212del MANE Select | ENSP00000260665.7:n.*1175_*1212del | |
ENST00000260665.11:c.*1175_*1212del | ENSP00000260665.7:n.*1175_*1212del | |
NM_133259.3:c.*1175_*1212del | NP_573566.2:n.*1175_*1212del | |
XR_002958896.1:n.5542_5579del | ||
NM_133259.4:c.*1175_*1212del MANE Select | NP_573566.2:n.*1175_*1212del |