HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926059_3926193del , CM000681.2:g.3926059_3926193del | GRCh38 |
NC_000019.9:g.3926057_3926191del , CM000681.1:g.3926057_3926191del | GRCh37 |
NC_000019.8:g.3877057_3877191del | NCBI36 |
NG_012638.1:g.50440_50574del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450849.7:c.*1467_*1601del MANE Select | ENSP00000390941.1:n.*1467_*1601del | |
ENST00000450849.6:c.*1467_*1601del | ENSP00000390941.1:n.*1467_*1601del | |
ENST00000600960.1:c.2647_2781del | ENSP00000470842.1:n.2647_2781del | |
ENST00000601323.1:n.440-199_440-65del | ||
NM_033064.4:c.*1467_*1601del | NP_149053.1:n.*1467_*1601del | |
NM_033064.5:c.*1467_*1601del MANE Select | NP_149053.1:n.*1467_*1601del |