HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989075_94989076del , CM000672.2:g.94989075_94989076del | GRCh38 |
NC_000010.10:g.96748832_96748833del , CM000672.1:g.96748832_96748833del | GRCh37 |
NC_000010.9:g.96738822_96738823del | NCBI36 |
NG_008385.1:g.55418_55419del | |
NG_008385.2:g.55918_55919del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.*47_*48del MANE Select | ENSP00000260682.6:n.*47_*48del | |
ENST00000643112.1:c.*529_*530del | ENSP00000496202.1:n.*529_*530del | |
ENST00000260682.6:c.*47_*48del | ENSP00000260682.6:n.*47_*48del | |
NM_000771.3:c.*47_*48del | NP_000762.2:n.*47_*48del | |
NM_000771.4:c.*47_*48del MANE Select | NP_000762.2:n.*47_*48del |