HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990413_45990419delinsCGGCGTG , CM000683.2:g.45990413_45990419delinsCGGCGTG | GRCh38 |
NC_000021.8:g.47410327_47410333delinsCGGCGTG , CM000683.1:g.47410327_47410333delinsCGGCGTG | GRCh37 |
NC_000021.7:g.46234755_46234761delinsCGGCGTG | NCBI36 |
NG_008674.1:g.13665_13671delinsCGGCGTG , LRG_475:g.13665_13671delinsCGGCGTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.993_999delinsCGGCGTG MANE Select | ENSP00000355180.3:p.Asp331= | |
ENST00000361866.7:c.993_999delinsCGGCGTG | ENSP00000355180.3:p.Asp331= | |
ENST00000612273.1:c.993_999delinsCGGCGTG | ENSP00000483630.1:p.Asp331= | |
NM_001848.2:c.993_999delinsCGGCGTG , LRG_475t1:c.993_999delinsCGGCGTG | NP_001839.2:p.Asp331= | |
NM_001848.3:c.993_999delinsCGGCGTG MANE Select | NP_001839.2:p.Asp331= |