HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225661_5225666del , CM000673.2:g.5225661_5225666del | GRCh38 |
NC_000011.9:g.5246891_5246896del , CM000673.1:g.5246891_5246896del | GRCh37 |
NC_000011.8:g.5203467_5203472del | NCBI36 |
NG_000007.3:g.71951_71956del | |
NG_059281.1:g.6407_6412del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.377_382del | ENSP00000494175.1:p.Pro126_Val127del | |
ENST00000335295.4:c.377_382del MANE Select | ENSP00000333994.3:p.Pro126_Val127del | |
ENST00000475226.1:n.309_314del | ||
ENST00000633227.1:c.*193_*198del | ENSP00000488004.1:n.*193_*198del | |
NM_000518.4:c.377_382del | NP_000509.1:p.Pro126_Val127del | |
NM_000518.5:c.377_382del MANE Select | NP_000509.1:p.Pro126_Val127del |