HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94056582del , CM000663.2:g.94056582del | GRCh38 |
NC_000001.10:g.94522138del , CM000663.1:g.94522138del | GRCh37 |
NC_000001.9:g.94294726del | NCBI36 |
NG_009073.1:g.69571del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2382+22del MANE Select | ENSP00000359245.3:n.2382+22del | |
ENST00000649773.1:c.2161-1264del | ENSP00000496882.1:n.2161-1264del | |
ENST00000370225.3:c.2382+22del | ENSP00000359245.3:n.2382+22del | |
ENST00000536513.5:c.-65+6595del | ENSP00000439707.2:n.-65+6595del | |
NM_000350.2:c.2382+22del | NP_000341.2:n.2382+22del | |
NM_000350.3:c.2382+22del MANE Select | NP_000341.2:n.2382+22del |