HGVS | Genome Assembly |
---|---|
NC_000012.12:g.106358135_106358139del , CM000674.2:g.106358135_106358139del | GRCh38 |
NC_000012.11:g.106751913_106751917del , CM000674.1:g.106751913_106751917del | GRCh37 |
NC_000012.10:g.105276043_105276047del | NCBI36 |
NG_031837.1:g.5478_5482del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228347.9:c.72+184_72+188del MANE Select | ENSP00000228347.4:n.72+184_72+188del | |
ENST00000228347.8:c.72+184_72+188del | ENSP00000228347.4:n.72+184_72+188del | |
ENST00000539066.5:c.-190_-186del | ENSP00000445721.1:n.-190_-186del | |
NM_001160708.1:c.-190_-186del | NP_001154180.1:n.-190_-186del | |
NM_018082.5:c.72+184_72+188del | NP_060552.4:n.72+184_72+188del | |
XM_017019621.2:c.72+184_72+188del | XP_016875110.1:n.72+184_72+188del | |
NM_018082.6:c.72+184_72+188del MANE Select | NP_060552.4:n.72+184_72+188del | |
NM_001160708.2:c.-190_-186del | NP_001154180.1:n.-190_-186del |