HGVS | Genome Assembly |
---|---|
NC_000021.9:g.36146315del , CM000683.2:g.36146315del | GRCh38 |
NC_000021.8:g.37518613del , CM000683.1:g.37518613del | GRCh37 |
NC_000021.7:g.36440483del | NCBI36 |
NG_052818.1:g.16415del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290354.6:c.637del (CBR3) MANE Select | ENSP00000290354.5:p.Asp213MetfsTer11 | |
ENST00000290354.5:c.637del (CBR3) | ENSP00000290354.5:p.Asp213MetfsTer11 | |
NM_001236.3:c.637del (CBR3) | NP_001227.1:p.Asp213MetfsTer11 | |
NR_038892.1:n.134del (CBR3-AS1) | ||
NR_038893.1:n.134del (CBR3-AS1) | ||
NR_038894.1:n.134del (CBR3-AS1) | ||
NM_001236.4:c.637del (CBR3) MANE Select | NP_001227.1:p.Asp213MetfsTer11 |