HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24290452_24290455del , CM000668.2:g.24290452_24290455del | GRCh38 |
NC_000006.11:g.24290680_24290683del , CM000668.1:g.24290680_24290683del | GRCh37 |
NC_000006.10:g.24398659_24398662del | NCBI36 |
NG_012829.1:g.72600_72603del | |
NG_012829.2:g.97840_97843del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.704+479_704+482del MANE Select | ENSP00000367715.3:n.704+479_704+482del | |
ENST00000378454.7:c.704+479_704+482del | ENSP00000367715.3:n.704+479_704+482del | |
NM_001195610.1:c.704+479_704+482del | NP_001182539.1:n.704+479_704+482del | |
NM_016356.4:c.704+479_704+482del | NP_057440.2:n.704+479_704+482del | |
NM_016356.5:c.704+479_704+482del MANE Select | NP_057440.2:n.704+479_704+482del | |
NM_001195610.2:c.704+479_704+482del | NP_001182539.1:n.704+479_704+482del |