HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612383_41612406dup , CM000679.2:g.41612383_41612406dup | GRCh38 |
NC_000017.10:g.39768635_39768658dup , CM000679.1:g.39768635_39768658dup | GRCh37 |
NC_000017.9:g.37022161_37022184dup | NCBI36 |
NG_008301.1:g.5430_5453dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.291_314dup MANE Select | ENSP00000301653.3:p.Gly105_Phe106insLeuGlyAlaGlyPheGlyGlyGly | |
ENST00000301653.8:c.291_314dup | ENSP00000301653.3:p.Gly105_Phe106insLeuGlyAlaGlyPheGlyGlyGly | |
ENST00000588319.1:n.368_391dup | ||
ENST00000593067.1:c.-312-112_-312-89dup | ENSP00000467124.1:n.-312-112_-312-89dup | |
NM_005557.3:c.291_314dup | NP_005548.2:p.Gly105_Phe106insLeuGlyAlaGlyPheGlyGlyGly | |
NM_005557.4:c.291_314dup MANE Select | NP_005548.2:p.Gly105_Phe106insLeuGlyAlaGlyPheGlyGlyGly |