HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940380del , CM000678.2:g.67940380del | GRCh38 |
NC_000016.9:g.67974283del , CM000678.1:g.67974283del | GRCh37 |
NC_000016.8:g.66531784del | NCBI36 |
NG_009778.1:g.8733del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.847del MANE Select | ENSP00000264005.5:p.Trp283GlyfsTer? | |
ENST00000264005.9:c.847del | ENSP00000264005.5:p.Trp283GlyfsTer? | |
ENST00000570369.5:c.156-306del | ||
ENST00000570980.1:c.631del | ENSP00000464651.1:p.Trp211GlyfsTer? | |
ENST00000573538.5:c.585del | ENSP00000463220.1:n.585del | |
NM_000229.1:c.847del | NP_000220.1:p.Trp283GlyfsTer? | |
NM_000229.2:c.847del MANE Select | NP_000220.1:p.Trp283GlyfsTer? |