HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49611290del , CM000672.2:g.49611290del | GRCh38 |
NC_000010.10:g.50819336del , CM000672.1:g.50819336del | GRCh37 |
NC_000010.9:g.50489342del | NCBI36 |
NG_011797.1:g.7196del | |
NG_053144.1:g.5990del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374115.5:c.550del (SLC18A3) MANE Select | ENSP00000363229.3:p.Leu184CysfsTer14 | |
ENST00000339797.5:c.-69+2091del (CHAT) | ENSP00000343486.1:n.-69+2091del | |
ENST00000374115.4:c.550del (SLC18A3) | ENSP00000363229.3:p.Leu184CysfsTer14 | |
NM_003055.2:c.550del (SLC18A3) | NP_003046.2:p.Leu184CysfsTer14 | |
NM_020984.3:c.-69+2091del (CHAT) | NP_066264.3:n.-69+2091del | |
NM_003055.3:c.550del (SLC18A3) MANE Select | NP_003046.2:p.Leu184CysfsTer14 | |
NM_020984.4:c.-69+2091del (CHAT) | NP_066264.4:n.-69+2091del |