HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957104del , CM000685.2:g.154957104del | GRCh38 |
NC_000023.10:g.154185379del , CM000685.1:g.154185379del | GRCh37 |
NC_000023.9:g.153838573del | NCBI36 |
NG_011403.1:g.70620del | |
NG_011403.2:g.70620del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1605del MANE Select | ENSP00000353393.4:p.Val536Ter | |
ENST00000647125.1:c.*1481del | ENSP00000496062.1:n.*1481del | |
ENST00000360256.8:c.1605del | ENSP00000353393.4:p.Val536Ter | |
NM_000132.3:c.1605del | NP_000123.1:p.Val536Ter | |
XM_011531126.1:c.1500del | XP_011529428.1:p.Val501Ter | |
NM_000132.4:c.1605del MANE Select | NP_000123.1:p.Val536Ter |