HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40471271_40471298delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA , CM000677.2:g.40471271_40471298delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | GRCh38 |
NC_000015.9:g.40763470_40763497delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA , CM000677.1:g.40763470_40763497delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | GRCh37 |
NC_000015.8:g.38550762_38550789delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | NCBI36 |
NG_017074.1:g.5311_5338delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA , LRG_600:g.5311_5338delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306243.7:c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA MANE Select | ENSP00000307297.6:p.Arg20= | |
ENST00000306243.6:c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | ENSP00000307297.5:p.Arg20= | |
ENST00000559991.1:c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | ENSP00000453882.1:p.Arg20= | |
NM_130468.3:c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA , LRG_600t1:c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | NP_569735.1:p.Arg20= | |
NM_130468.4:c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA MANE Select | NP_569735.1:p.Arg20= |