HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226662_5226663del , CM000673.2:g.5226662_5226663del | GRCh38 |
NC_000011.9:g.5247892_5247893del , CM000673.1:g.5247892_5247893del | GRCh37 |
NC_000011.8:g.5204468_5204469del | NCBI36 |
NG_000007.3:g.70953_70954del | |
NG_059281.1:g.5409_5410del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.229_230del | ENSP00000494175.1:p.Ala77SerfsTer14 | |
ENST00000335295.4:c.229_230del MANE Select | ENSP00000333994.3:p.Ala77SerfsTer14 | |
ENST00000380315.2:c.229_230del | ENSP00000369671.2:p.Ala77SerfsTer14 | |
ENST00000475226.1:n.161_162del | ||
ENST00000485743.1:n.280_281del | ||
ENST00000633227.1:c.*45_*46del | ENSP00000488004.1:n.*45_*46del | |
NM_000518.4:c.229_230del | NP_000509.1:p.Ala77SerfsTer14 | |
NM_000518.5:c.229_230del MANE Select | NP_000509.1:p.Ala77SerfsTer14 |