HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940830del , CM000678.2:g.67940830del | GRCh38 |
NC_000016.9:g.67974733del , CM000678.1:g.67974733del | GRCh37 |
NC_000016.8:g.66532234del | NCBI36 |
NG_009778.1:g.8283del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-352del MANE Select | ENSP00000264005.5:n.749-352del | |
ENST00000264005.9:c.749-352del | ENSP00000264005.5:n.749-352del | |
ENST00000570369.5:c.156-756del | ||
ENST00000570980.1:c.533-352del | ENSP00000464651.1:n.533-352del | |
ENST00000573538.5:c.393del | ENSP00000463220.1:p.Thr132GlnfsTer? | |
NM_000229.1:c.749-352del | NP_000220.1:n.749-352del | |
NM_000229.2:c.749-352del MANE Select | NP_000220.1:n.749-352del |