HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312728_118312754del , CM000673.2:g.118312728_118312754del | GRCh38 |
NC_000011.9:g.118183443_118183469del , CM000673.1:g.118183443_118183469del | GRCh37 |
NC_000011.8:g.117688653_117688679del | NCBI36 |
NG_007383.1:g.13149_13175del , LRG_38:g.13149_13175del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.214_240del MANE Select | ENSP00000354566.4:p.Asp72_Asp80del | |
ENST00000361763.8:c.214_240del | ENSP00000354566.4:p.Asp72_Asp80del | |
ENST00000526146.5:n.760_786del | ||
ENST00000528435.5:n.767_793del | ||
ENST00000528600.1:c.196_222del | ENSP00000433975.1:p.Asp66_Asp74del | |
ENST00000529713.5:n.320_346del | ||
ENST00000531913.1:n.585_611del | ||
NM_000733.3:c.214_240del , LRG_38t1:c.214_240del | NP_000724.1:p.Asp72_Asp80del | |
NM_000733.4:c.214_240del MANE Select | NP_000724.1:p.Asp72_Asp80del |