HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738831_120738839del , CM000674.2:g.120738831_120738839del | GRCh38 |
NC_000012.11:g.121176634_121176642del , CM000674.1:g.121176634_121176642del | GRCh37 |
NC_000012.10:g.119661017_119661025del | NCBI36 |
NG_007991.1:g.18064_18072del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.945_953del MANE Select | ENSP00000242592.4:p.Asp316_Ala318del | |
ENST00000242592.8:c.945_953del | ENSP00000242592.4:p.Asp316_Ala318del | |
ENST00000411593.2:c.933_941del | ENSP00000401045.2:p.Asp312_Ala314del | |
NM_000017.3:c.945_953del | NP_000008.1:p.Asp316_Ala318del | |
NM_001302554.1:c.933_941del | NP_001289483.1:p.Asp312_Ala314del | |
NM_000017.4:c.945_953del MANE Select | NP_000008.1:p.Asp316_Ala318del | |
NM_001302554.2:c.933_941del | NP_001289483.1:p.Asp312_Ala314del |