HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95307940_95307944del , CM000669.2:g.95307940_95307944del | GRCh38 |
NC_000007.13:g.94937252_94937256del , CM000669.1:g.94937252_94937256del | GRCh37 |
NC_000007.12:g.94775188_94775192del | NCBI36 |
NG_008779.1:g.21631_21635del | |
NG_008779.2:g.21765_21769del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222381.8:c.698+69_698+73del MANE Select | ENSP00000222381.3:n.698+69_698+73del | |
ENST00000222381.7:c.698+69_698+73del | ENSP00000222381.3:n.698+69_698+73del | |
ENST00000433729.1:c.*423+69_*423+73del | ENSP00000407359.1:n.*423+69_*423+73del | |
NM_000446.5:c.698+69_698+73del | NP_000437.3:n.698+69_698+73del | |
NM_000446.6:c.698+69_698+73del | NP_000437.3:n.698+69_698+73del | |
NM_000446.7:c.698+69_698+73del MANE Select | NP_000437.3:n.698+69_698+73del |