HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727201_82727202del , CM000679.2:g.82727201_82727202del | GRCh38 |
NC_000017.10:g.80685077_80685078del , CM000679.1:g.80685077_80685078del | GRCh37 |
NC_000017.9:g.78278366_78278367del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*30_*31del MANE Select | ENSP00000269373.6:n.*30_*31del | |
ENST00000269373.10:c.*30_*31del | ENSP00000269373.6:n.*30_*31del | |
ENST00000571594.1:c.53+34_53+35del | ENSP00000459751.1:n.53+34_53+35del | |
ENST00000574832.5:c.*917_*918del | ENSP00000460869.1:n.*917_*918del | |
NM_024619.3:c.*30_*31del | NP_078895.2:n.*30_*31del | |
NR_046408.1:n.1138_1139del | ||
XM_024450948.1:c.*30_*31del | XP_024306716.1:n.*30_*31del | |
NM_024619.4:c.*30_*31del MANE Select | NP_078895.2:n.*30_*31del | |
NR_046408.2:n.1138_1139del |