HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727251_82727252del , CM000679.2:g.82727251_82727252del | GRCh38 |
NC_000017.10:g.80685127_80685128del , CM000679.1:g.80685127_80685128del | GRCh37 |
NC_000017.9:g.78278416_78278417del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*80_*81del MANE Select | ENSP00000269373.6:n.*80_*81del | |
ENST00000269373.10:c.*80_*81del | ENSP00000269373.6:n.*80_*81del | |
ENST00000571594.1:c.53+84_53+85del | ENSP00000459751.1:n.53+84_53+85del | |
ENST00000574832.5:c.*967_*968del | ENSP00000460869.1:n.*967_*968del | |
NM_024619.3:c.*80_*81del | NP_078895.2:n.*80_*81del | |
NR_046408.1:n.1188_1189del | ||
XM_024450948.1:c.*80_*81del | XP_024306716.1:n.*80_*81del | |
NM_024619.4:c.*80_*81del MANE Select | NP_078895.2:n.*80_*81del | |
NR_046408.2:n.1188_1189del |