HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733317del , CM000684.2:g.37733317del | GRCh38 |
NC_000022.10:g.38129324del , CM000684.1:g.38129324del | GRCh37 |
NC_000022.9:g.36459270del | NCBI36 |
NG_012857.1:g.41330del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3967del MANE Select | ENSP00000496394.1:p.Ala1323ProfsTer? | |
ENST00000344404.10:c.*3450del | ENSP00000340312.6:n.*3450del | |
ENST00000406386.7:c.3967del | ENSP00000384312.3:p.Ala1323ProfsTer? | |
NM_001039141.2:c.3967del | NP_001034230.1:p.Ala1323ProfsTer? | |
XM_011530646.1:c.512-2954del | XP_011528948.1:n.512-2954del | |
NM_001039141.3:c.3967del MANE Select | NP_001034230.1:p.Ala1323ProfsTer? |