HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159322294del , CM000667.2:g.159322294del | GRCh38 |
NC_000005.9:g.158749302del , CM000667.1:g.158749302del | GRCh37 |
NC_000005.8:g.158681880del | NCBI36 |
NG_009618.1:g.13183del , LRG_71:g.13183del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-1771del | ENSP00000512849.1:n.-148-1771del | |
ENST00000696751.1:c.364+763del | ENSP00000512850.1:n.364+763del | |
ENST00000231228.3:c.482+103del MANE Select | ENSP00000231228.2:n.482+103del | |
ENST00000231228.2:c.482+103del | ENSP00000231228.2:n.482+103del | |
NM_002187.2:c.482+103del , LRG_71t1:c.482+103del | NP_002178.2:n.482+103del | |
XR_001742945.1:n.147+1698del | ||
NM_002187.3:c.482+103del MANE Select | NP_002178.2:n.482+103del |