HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA , CM000679.2:g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | GRCh38 |
NC_000017.10:g.7915894_7915895insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA , CM000679.1:g.7915894_7915895insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | GRCh37 |
NC_000017.9:g.7856619_7856620insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | NCBI36 |
NG_009092.1:g.14907_14908insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA MANE Select | ENSP00000254854.4:p.Lys695ThrfsTer12 | |
ENST00000254854.4:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | ENSP00000254854.4:p.Lys695ThrfsTer12 | |
NM_000180.3:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | NP_000171.1:p.Lys695ThrfsTer12 | |
XM_011523816.1:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | XP_011522118.1:p.Lys695ThrfsTer12 | |
NM_000180.4:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA MANE Select | NP_000171.1:p.Lys695ThrfsTer12 |