HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727212_82727213del , CM000679.2:g.82727212_82727213del | GRCh38 |
NC_000017.10:g.80685088_80685089del , CM000679.1:g.80685088_80685089del | GRCh37 |
NC_000017.9:g.78278377_78278378del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*41_*42del MANE Select | ENSP00000269373.6:n.*41_*42del | |
ENST00000269373.10:c.*41_*42del | ENSP00000269373.6:n.*41_*42del | |
ENST00000571594.1:c.53+45_53+46del | ENSP00000459751.1:n.53+45_53+46del | |
ENST00000574832.5:c.*928_*929del | ENSP00000460869.1:n.*928_*929del | |
NM_024619.3:c.*41_*42del | NP_078895.2:n.*41_*42del | |
NR_046408.1:n.1149_1150del | ||
XM_024450948.1:c.*41_*42del | XP_024306716.1:n.*41_*42del | |
NM_024619.4:c.*41_*42del MANE Select | NP_078895.2:n.*41_*42del | |
NR_046408.2:n.1149_1150del |