HGVS | Genome Assembly |
---|---|
NC_000019.10:g.8305041_8305043del , CM000681.2:g.8305041_8305043del | GRCh38 |
NC_000019.9:g.8369925_8369927del , CM000681.1:g.8369925_8369927del | GRCh37 |
NC_000019.8:g.8275925_8275927del | NCBI36 |
NG_028124.1:g.8320_8322del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301458.10:c.262_264del (CD320) MANE Select | ENSP00000301458.4:p.Glu88del | |
ENST00000301458.9:c.262_264del (CD320) | ENSP00000301458.4:p.Glu88del | |
ENST00000351593.9:c.-87-43033_-87-43031del (ELAVL1) | ENSP00000264073.6:n.-87-43033_-87-43031del | |
ENST00000537716.6:c.143-949_143-947del (CD320) | ENSP00000437697.1:n.143-949_143-947del | |
ENST00000596002.5:c.*665_*667del (CD320) | ENSP00000471773.1:n.*665_*667del | |
ENST00000598299.1:n.307_309del (CD320) | ||
ENST00000599573.1:c.243_245del (CD320) | ||
NM_001165895.1:c.143-949_143-947del (CD320) | NP_001159367.1:n.143-949_143-947del | |
NM_016579.3:c.262_264del (CD320) | NP_057663.1:p.Glu88del | |
NM_016579.4:c.262_264del (CD320) MANE Select | NP_057663.1:p.Glu88del | |
NM_001165895.2:c.143-949_143-947del (CD320) | NP_001159367.1:n.143-949_143-947del |