HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940761_67940763del , CM000678.2:g.67940761_67940763del | GRCh38 |
NC_000016.9:g.67974664_67974666del , CM000678.1:g.67974664_67974666del | GRCh37 |
NC_000016.8:g.66532165_66532167del | NCBI36 |
NG_009778.1:g.8350_8352del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-285_749-283del MANE Select | ENSP00000264005.5:n.749-285_749-283del | |
ENST00000264005.9:c.749-285_749-283del | ENSP00000264005.5:n.749-285_749-283del | |
ENST00000570369.5:c.156-689_156-687del | ||
ENST00000570980.1:c.533-285_533-283del | ENSP00000464651.1:n.533-285_533-283del | |
ENST00000573538.5:c.460_462del | ENSP00000463220.1:n.460_462del | |
NM_000229.1:c.749-285_749-283del | NP_000220.1:n.749-285_749-283del | |
NM_000229.2:c.749-285_749-283del MANE Select | NP_000220.1:n.749-285_749-283del |