HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73323790del , CM000677.2:g.73323790del | GRCh38 |
NC_000015.9:g.73616131del , CM000677.1:g.73616131del | GRCh37 |
NC_000015.8:g.71403184del | NCBI36 |
NG_009063.1:g.50479del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261917.4:c.2307del MANE Select | ENSP00000261917.3:p.Thr770ArgfsTer8 | |
ENST00000261917.3:c.2307del | ENSP00000261917.3:p.Thr770ArgfsTer8 | |
NM_005477.2:c.2307del | NP_005468.1:p.Thr770ArgfsTer8 | |
XM_011521148.1:c.1089del | XP_011519450.1:p.Thr364ArgfsTer8 | |
XM_011521148.2:c.1089del | XP_011519450.1:p.Thr364ArgfsTer8 | |
NM_005477.3:c.2307del MANE Select | NP_005468.1:p.Thr770ArgfsTer8 |