HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665746_172665757del , CM000663.2:g.172665746_172665757del | GRCh38 |
NC_000001.10:g.172634886_172634897del , CM000663.1:g.172634886_172634897del | GRCh37 |
NC_000001.9:g.170901509_170901520del | NCBI36 |
NG_007269.1:g.11702_11713del , LRG_58:g.11702_11713del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.576_587del MANE Select | ENSP00000356694.2:p.Ser193_Tyr196del | |
ENST00000340030.4:c.*146_*157del | ENSP00000344739.3:n.*146_*157del | |
ENST00000367721.2:c.576_587del | ENSP00000356694.2:p.Ser193_Tyr196del | |
NM_000639.2:c.576_587del | NP_000630.1:p.Ser193_Tyr196del | |
NM_001302746.1:c.*146_*157del | NP_001289675.1:n.*146_*157del | |
NM_000639.3:c.576_587del MANE Select | NP_000630.1:p.Ser193_Tyr196del | |
NM_001302746.2:c.*146_*157del | NP_001289675.1:n.*146_*157del |