HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99307794del , CM000666.2:g.99307794del | GRCh38 |
NC_000004.11:g.100228951del , CM000666.1:g.100228951del | GRCh37 |
NC_000004.10:g.100447974del | NCBI36 |
NG_011435.1:g.18624del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305046.13:c.*48del MANE Select | ENSP00000306606.8:n.*48del | |
ENST00000305046.12:c.*48del | ENSP00000306606.8:n.*48del | |
ENST00000506651.5:c.*48del | ENSP00000425998.2:n.*48del | |
ENST00000515694.4:n.3271del | ||
ENST00000625860.2:c.*48del | ENSP00000486614.1:n.*48del | |
NM_000668.5:c.*48del | NP_000659.2:n.*48del | |
NM_001286650.1:c.*48del | NP_001273579.1:n.*48del | |
NM_000668.6:c.*48del MANE Select | NP_000659.2:n.*48del | |
NM_001286650.2:c.*48del | NP_001273579.1:n.*48del |