HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226641_5226660del , CM000673.2:g.5226641_5226660del | GRCh38 |
NC_000011.9:g.5247871_5247890del , CM000673.1:g.5247871_5247890del | GRCh37 |
NC_000011.8:g.5204447_5204466del | NCBI36 |
NG_000007.3:g.70961_70980del | |
NG_059281.1:g.5417_5436del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.237_256del | ENSP00000494175.1:p.Asp80CysfsTer5 | |
ENST00000335295.4:c.237_256del MANE Select | ENSP00000333994.3:p.Asp80CysfsTer5 | |
ENST00000380315.2:c.237_256del | ENSP00000369671.2:p.Asp80CysfsTer5 | |
ENST00000475226.1:n.169_188del | ||
ENST00000485743.1:n.288_307del | ||
ENST00000633227.1:c.*53_*72del | ENSP00000488004.1:n.*53_*72del | |
NM_000518.4:c.237_256del | NP_000509.1:p.Asp80CysfsTer5 | |
NM_000518.5:c.237_256del MANE Select | NP_000509.1:p.Asp80CysfsTer5 |