HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94056531del , CM000663.2:g.94056531del | GRCh38 |
NC_000001.10:g.94522087del , CM000663.1:g.94522087del | GRCh37 |
NC_000001.9:g.94294675del | NCBI36 |
NG_009073.1:g.69621del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2382+72del MANE Select | ENSP00000359245.3:n.2382+72del | |
ENST00000649773.1:c.2161-1214del | ENSP00000496882.1:n.2161-1214del | |
ENST00000370225.3:c.2382+72del | ENSP00000359245.3:n.2382+72del | |
ENST00000536513.5:c.-65+6645del | ENSP00000439707.2:n.-65+6645del | |
NM_000350.2:c.2382+72del | NP_000341.2:n.2382+72del | |
NM_000350.3:c.2382+72del MANE Select | NP_000341.2:n.2382+72del |