HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320420_159320422del , CM000667.2:g.159320420_159320422del | GRCh38 |
NC_000005.9:g.158747428_158747430del , CM000667.1:g.158747428_158747430del | GRCh37 |
NC_000005.8:g.158680006_158680008del | NCBI36 |
NG_009618.1:g.15056_15058del , LRG_71:g.15056_15058del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-46_-44del | ENSP00000512849.1:n.-46_-44del | |
ENST00000696751.1:c.*80_*82del | ENSP00000512850.1:n.*80_*82del | |
ENST00000231228.3:c.585_587del MANE Select | ENSP00000231228.2:p.Glu195del | |
ENST00000231228.2:c.585_587del | ENSP00000231228.2:p.Glu195del | |
NM_002187.2:c.585_587del , LRG_71t1:c.585_587del | NP_002178.2:p.Glu195del | |
NM_002187.3:c.585_587del MANE Select | NP_002178.2:p.Glu195del |