HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268875_31268878del , CM000668.2:g.31268875_31268878del | GRCh38 |
NC_000006.11:g.31236652_31236655del , CM000668.1:g.31236652_31236655del | GRCh37 |
NC_000006.10:g.31344631_31344634del | NCBI36 |
NG_029422.2:g.8254_8257del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*291_*294del MANE Select | ENSP00000365402.5:n.*291_*294del | |
ENST00000376228.9:c.*291_*294del | ENSP00000365402.5:n.*291_*294del | |
ENST00000376237.8:c.*979_*982del | ENSP00000365412.4:n.*979_*982del | |
ENST00000383329.7:c.*291_*294del | ENSP00000372819.3:n.*291_*294del | |
ENST00000466892.5:n.625_628del | ||
ENST00000470363.5:n.1150_1153del | ||
ENST00000487245.5:n.1751_1754del | ||
NM_002117.5:c.*291_*294del | NP_002108.4:n.*291_*294del | |
NM_002117.6:c.*291_*294del MANE Select | NP_002108.4:n.*291_*294del |