HGVS | Genome Assembly |
---|---|
NC_000002.12:g.182838666_182838667del , CM000664.2:g.182838666_182838667del | GRCh38 |
NC_000002.11:g.183703394_183703395del , CM000664.1:g.183703394_183703395del | GRCh37 |
NC_000002.10:g.183411639_183411640del | NCBI36 |
NG_017197.1:g.33106_33107del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295113.5:c.593-52_593-51del MANE Select | ENSP00000295113.4:n.593-52_593-51del | |
ENST00000295113.4:c.593-52_593-51del | ENSP00000295113.4:n.593-52_593-51del | |
NM_001463.3:c.593-52_593-51del | NP_001454.2:n.593-52_593-51del | |
NM_001463.4:c.593-52_593-51del MANE Select | NP_001454.2:n.593-52_593-51del |