HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30211472dup , CM000679.2:g.30211472dup | GRCh38 |
NC_000017.10:g.28538490dup , CM000679.1:g.28538490dup | GRCh37 |
NC_000017.9:g.25562616dup | NCBI36 |
NG_011747.2:g.29465dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.1205-48dup MANE Select | ENSP00000498537.1:n.1205-48dup | |
ENST00000261707.7:c.1205-48dup | ENSP00000261707.3:n.1205-48dup | |
ENST00000394821.2:c.1205-48dup | ENSP00000378298.2:n.1205-48dup | |
ENST00000401766.6:c.1205-48dup | ENSP00000385822.2:n.1205-48dup | |
NM_001045.5:c.1205-48dup | NP_001036.1:n.1205-48dup | |
NM_001045.6:c.1205-48dup MANE Select | NP_001036.1:n.1205-48dup |