HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159315929_159315933del , CM000667.2:g.159315929_159315933del | GRCh38 |
NC_000005.9:g.158742937_158742941del , CM000667.1:g.158742937_158742941del | GRCh37 |
NC_000005.8:g.158675515_158675519del | NCBI36 |
NG_009618.1:g.19541_19545del , LRG_71:g.19541_19545del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.*168_*172del | ENSP00000512849.1:n.*168_*172del | |
ENST00000696751.1:c.*650_*654del | ENSP00000512850.1:n.*650_*654del | |
ENST00000231228.3:c.*168_*172del MANE Select | ENSP00000231228.2:n.*168_*172del | |
ENST00000231228.2:c.*168_*172del | ENSP00000231228.2:n.*168_*172del | |
NM_002187.2:c.*168_*172del , LRG_71t1:c.*168_*172del | NP_002178.2:n.*168_*172del | |
NM_002187.3:c.*168_*172del MANE Select | NP_002178.2:n.*168_*172del |