HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192316_50192317del , CM000685.2:g.50192316_50192317del | GRCh38 |
NC_000023.10:g.49956967_49956968del , CM000685.1:g.49956967_49956968del | GRCh37 |
NC_000023.9:g.49843707_49843708del | NCBI36 |
NG_012552.1:g.13697_13698del | |
NG_012552.2:g.13697_13698del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2396_2397del MANE Select | ENSP00000351327.2:p.Gly799AlafsTer11 | |
ENST00000358526.6:c.2396_2397del | ENSP00000351327.2:p.Gly799AlafsTer11 | |
ENST00000376064.7:c.2369_2370del | ENSP00000365232.3:p.Gly790AlafsTer11 | |
ENST00000481402.5:n.2508_2509del | ||
NM_003886.2:c.2396_2397del | NP_003877.2:p.Gly799AlafsTer11 | |
NM_139289.1:c.2369_2370del | NP_647450.1:p.Gly790AlafsTer11 | |
NM_003886.3:c.2396_2397del MANE Select | NP_003877.2:p.Gly799AlafsTer11 | |
NM_139289.2:c.2369_2370del | NP_647450.1:p.Gly790AlafsTer11 |