HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30786113dup , CM000670.2:g.30786113dup | GRCh38 |
NC_000008.10:g.30643629dup , CM000670.1:g.30643629dup | GRCh37 |
NC_000008.9:g.30763171dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221138.9:c.*123dup MANE Select | ENSP00000221138.4:n.*123dup | |
ENST00000221138.8:c.*123dup | ENSP00000221138.4:n.*123dup | |
ENST00000518532.1:n.563dup | ||
ENST00000518564.1:c.142-123dup | ENSP00000428142.1:n.142-123dup | |
ENST00000523023.1:c.181+99dup | ||
NM_001009552.1:c.*123dup | NP_001009552.1:n.*123dup | |
NM_001009552.2:c.*123dup MANE Select | NP_001009552.1:n.*123dup |