HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775752_94775753del , CM000672.2:g.94775752_94775753del | GRCh38 |
NC_000010.10:g.96535509_96535510del , CM000672.1:g.96535509_96535510del | GRCh37 |
NC_000010.9:g.96525499_96525500del | NCBI36 |
NG_008384.2:g.18047_18048del | |
NG_008384.3:g.18072_18073del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.481+213_481+214del MANE Select | ENSP00000360372.3:n.481+213_481+214del | |
ENST00000645461.1:n.1534+213_1534+214del | ||
ENST00000371321.7:c.481+213_481+214del | ENSP00000360372.3:n.481+213_481+214del | |
ENST00000464755.1:c.1244+213_1244+214del | ENSP00000483243.1:n.1244+213_1244+214del | |
ENST00000480405.2:c.*205_*206del | ENSP00000483847.1:n.*205_*206del | |
NM_000769.2:c.481+213_481+214del | NP_000760.1:n.481+213_481+214del | |
NM_000769.4:c.481+213_481+214del MANE Select | NP_000760.1:n.481+213_481+214del |