HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727192_82727194del , CM000679.2:g.82727192_82727194del | GRCh38 |
NC_000017.10:g.80685068_80685070del , CM000679.1:g.80685068_80685070del | GRCh37 |
NC_000017.9:g.78278357_78278359del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*21_*23del MANE Select | ENSP00000269373.6:n.*21_*23del | |
ENST00000269373.10:c.*21_*23del | ENSP00000269373.6:n.*21_*23del | |
ENST00000571594.1:c.53+25_53+27del | ENSP00000459751.1:n.53+25_53+27del | |
ENST00000574832.5:c.*908_*910del | ENSP00000460869.1:n.*908_*910del | |
NM_024619.3:c.*21_*23del | NP_078895.2:n.*21_*23del | |
NR_046408.1:n.1129_1131del | ||
XM_024450948.1:c.*21_*23del | XP_024306716.1:n.*21_*23del | |
NM_024619.4:c.*21_*23del MANE Select | NP_078895.2:n.*21_*23del | |
NR_046408.2:n.1129_1131del |