HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107717418_107717419insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT , CM000669.2:g.107717418_107717419insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT | GRCh38 |
NC_000007.13:g.107357863_107357864insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT , CM000669.1:g.107357863_107357864insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT | GRCh37 |
NC_000007.12:g.107145099_107145100insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT | NCBI36 |
NG_008489.1:g.61784_61785insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.*1972_*1973insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT MANE Select | ENSP00000494017.1:n.*1972_*1973insTGTTGGC... | |
ENST00000265715.7:c.*1972_*1973insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT | ENSP00000265715.3:n.*1972_*1973insTGTTGGC... | |
NM_000441.1:c.*1972_*1973insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT | NP_000432.1:n.*1972_*1973insTGTTGGCACTTAG... | |
NM_000441.2:c.*1972_*1973insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT MANE Select | NP_000432.1:n.*1972_*1973insTGTTGGCACTTAG... |