HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372316del , CM000679.2:g.44372316del | GRCh38 |
NC_000017.10:g.42449684del , CM000679.1:g.42449684del | GRCh37 |
NC_000017.9:g.39805210del | NCBI36 |
NG_008331.1:g.22190del , LRG_479:g.22190del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.*48del MANE Select | ENSP00000262407.5:n.*48del | |
ENST00000648408.1:c.2482del | ||
ENST00000262407.5:c.*48del | ENSP00000262407.5:n.*48del | |
ENST00000587295.5:c.361del | ||
ENST00000588098.1:c.145del | ||
NM_000419.3:c.*48del , LRG_479t1:c.*48del | NP_000410.2:n.*48del | |
XM_011524749.1:c.*48del | XP_011523051.1:n.*48del | |
XM_011524750.1:c.*48del | XP_011523052.1:n.*48del | |
NM_000419.4:c.*48del | NP_000410.2:n.*48del | |
NM_000419.5:c.*48del MANE Select | NP_000410.2:n.*48del |