HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154969500_154969530del , CM000685.2:g.154969500_154969530del | GRCh38 |
NC_000023.10:g.154197775_154197805del , CM000685.1:g.154197775_154197805del | GRCh37 |
NC_000023.9:g.153850969_153850999del | NCBI36 |
NG_011403.1:g.58195_58225del | |
NG_011403.2:g.58195_58225del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.811_841del MANE Select | ENSP00000353393.4:p.Ser271ProfsTer17 | |
ENST00000647125.1:c.*687_*717del | ENSP00000496062.1:n.*687_*717del | |
ENST00000360256.8:c.811_841del | ENSP00000353393.4:p.Ser271ProfsTer17 | |
NM_000132.3:c.811_841del | NP_000123.1:p.Ser271ProfsTer17 | |
XM_011531126.1:c.706_736del | XP_011529428.1:p.Ser236ProfsTer17 | |
NM_000132.4:c.811_841del MANE Select | NP_000123.1:p.Ser271ProfsTer17 |