HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631358_4631367del , CM000679.2:g.4631358_4631367del | GRCh38 |
NC_000017.10:g.4534653_4534662del , CM000679.1:g.4534653_4534662del | GRCh37 |
NC_000017.9:g.4481402_4481411del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.*238_*247del MANE Select | ENSP00000293761.3:n.*238_*247del | |
ENST00000293761.7:c.*238_*247del | ENSP00000293761.3:n.*238_*247del | |
ENST00000570836.5:c.*238_*247del | ENSP00000458832.1:n.*238_*247del | |
ENST00000574640.1:c.*238_*247del | ENSP00000460483.1:n.*238_*247del | |
NM_001140.3:c.*238_*247del | NP_001131.3:n.*238_*247del | |
NM_001140.4:c.*238_*247del | NP_001131.3:n.*238_*247del | |
NM_001140.5:c.*238_*247del MANE Select | NP_001131.3:n.*238_*247del |