HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154953961_154953973del , CM000685.2:g.154953961_154953973del | GRCh38 |
NC_000023.10:g.154182236_154182248del , CM000685.1:g.154182236_154182248del | GRCh37 |
NC_000023.9:g.153835430_153835442del | NCBI36 |
NG_011403.1:g.73752_73764del | |
NG_011403.2:g.73752_73764del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1823_1835del MANE Select | ENSP00000353393.4:p.Glu608AlafsTer? | |
ENST00000647125.1:c.*1699_*1711del | ENSP00000496062.1:n.*1699_*1711del | |
ENST00000360256.8:c.1823_1835del | ENSP00000353393.4:p.Glu608AlafsTer? | |
NM_000132.3:c.1823_1835del | NP_000123.1:p.Glu608AlafsTer? | |
XM_011531126.1:c.1718_1730del | XP_011529428.1:p.Glu573AlafsTer? | |
NM_000132.4:c.1823_1835del MANE Select | NP_000123.1:p.Glu608AlafsTer? |