HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259438_24259439del , CM000676.2:g.24259438_24259439del | GRCh38 |
NC_000014.8:g.24728644_24728645del , CM000676.1:g.24728644_24728645del | GRCh37 |
NC_000014.7:g.23798484_23798485del | NCBI36 |
NG_007150.1:g.8730_8731del | |
NG_007150.2:g.8730_8731del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.985-188_985-187del MANE Select | ENSP00000206765.6:n.985-188_985-187del | |
ENST00000206765.10:c.985-188_985-187del | ENSP00000206765.6:n.985-188_985-187del | |
ENST00000544573.5:c.-28-1049_-28-1048del | ENSP00000439446.1:n.-28-1049_-28-1048del | |
ENST00000559136.1:c.58-188_58-187del | ENSP00000453337.1:n.58-188_58-187del | |
NM_000359.2:c.985-188_985-187del | NP_000350.1:n.985-188_985-187del | |
NM_000359.3:c.985-188_985-187del MANE Select | NP_000350.1:n.985-188_985-187del |