HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727249_82727250delinsCT , CM000679.2:g.82727249_82727250delinsCT | GRCh38 |
NC_000017.10:g.80685125_80685126delinsCT , CM000679.1:g.80685125_80685126delinsCT | GRCh37 |
NC_000017.9:g.78278414_78278415delinsCT | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*78_*79delinsCT MANE Select | ENSP00000269373.6:n.*78_*79delinsCT | |
ENST00000269373.10:c.*78_*79delinsCT | ENSP00000269373.6:n.*78_*79delinsCT | |
ENST00000571594.1:c.53+82_53+83delinsCT | ENSP00000459751.1:n.53+82_53+83delinsCT | |
ENST00000574832.5:c.*965_*966delinsCT | ENSP00000460869.1:n.*965_*966delinsCT | |
XM_024450948.1:c.*78_*79delinsCT | XP_024306716.1:n.*78_*79delinsCT | |
NM_024619.4:c.*78_*79delinsCT MANE Select | NP_078895.2:n.*78_*79delinsCT | |
NR_046408.2:n.1186_1187delinsCT |