HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64750427_64750429del , CM000673.2:g.64750427_64750429del | GRCh38 |
NC_000011.9:g.64517899_64517901del , CM000673.1:g.64517899_64517901del | GRCh37 |
NC_000011.8:g.64274475_64274477del | NCBI36 |
NG_007574.1:g.32_34del , LRG_100:g.32_34del | |
NG_013018.1:g.15291_15293del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2128_2130del MANE Select | ENSP00000164139.3:p.Phe710del | |
ENST00000164139.3:c.2128_2130del | ENSP00000164139.3:p.Phe710del | |
ENST00000377432.7:c.1864_1866del | ENSP00000366650.3:p.Phe622del | |
NM_001164716.1:c.1864_1866del | NP_001158188.1:p.Phe622del | |
NM_005609.2:c.2128_2130del | NP_005600.1:p.Phe710del | |
NM_005609.3:c.2128_2130del | NP_005600.1:p.Phe710del | |
NM_005609.4:c.2128_2130del MANE Select | NP_005600.1:p.Phe710del |