HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24302100_24302101dup , CM000668.2:g.24302100_24302101dup | GRCh38 |
NC_000006.11:g.24302328_24302329dup , CM000668.1:g.24302328_24302329dup | GRCh37 |
NC_000006.10:g.24410307_24410308dup | NCBI36 |
NG_012829.1:g.60959_60960dup | |
NG_012829.2:g.86199_86200dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.349-50_349-49dup MANE Select | ENSP00000367715.3:n.349-50_349-49dup | |
ENST00000378454.7:c.349-50_349-49dup | ENSP00000367715.3:n.349-50_349-49dup | |
NM_001195610.1:c.349-50_349-49dup | NP_001182539.1:n.349-50_349-49dup | |
NM_016356.4:c.349-50_349-49dup | NP_057440.2:n.349-50_349-49dup | |
NM_016356.5:c.349-50_349-49dup MANE Select | NP_057440.2:n.349-50_349-49dup | |
NM_001195610.2:c.349-50_349-49dup | NP_001182539.1:n.349-50_349-49dup |