HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154961079del , CM000685.2:g.154961079del | GRCh38 |
NC_000023.10:g.154189354del , CM000685.1:g.154189354del | GRCh37 |
NC_000023.9:g.153842548del | NCBI36 |
NG_011403.1:g.66648del | |
NG_011403.2:g.66648del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1536del MANE Select | ENSP00000353393.4:p.Gly513ValfsTer2 | |
ENST00000647125.1:c.*1412del | ENSP00000496062.1:n.*1412del | |
ENST00000360256.8:c.1536del | ENSP00000353393.4:p.Gly513ValfsTer2 | |
NM_000132.3:c.1536del | NP_000123.1:p.Gly513ValfsTer2 | |
XM_011531126.1:c.1431del | XP_011529428.1:p.Gly478ValfsTer2 | |
NM_000132.4:c.1536del MANE Select | NP_000123.1:p.Gly513ValfsTer2 |