HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734487dup , CM000679.2:g.4734487dup | GRCh38 |
NC_000017.10:g.4637782dup , CM000679.1:g.4637782dup | GRCh37 |
NC_000017.9:g.4584531dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*24-3dup MANE Select | ENSP00000293778.7:n.*24-3dup | |
ENST00000574412.6:c.*124dup | ENSP00000459592.2:n.*124dup | |
ENST00000293778.10:c.*24-3dup | ENSP00000293778.6:n.*24-3dup | |
ENST00000574412.5:c.*124dup | ENSP00000459592.1:n.*124dup | |
ENST00000576153.5:n.580-3dup | ||
NM_022059.3:c.*24-3dup | NP_071342.2:n.*24-3dup | |
NM_022059.4:c.*24-3dup | NP_071342.2:n.*24-3dup | |
NM_001386809.1:c.*24-3dup MANE Select | NP_001373738.1:n.*24-3dup |