HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281509_11281510insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT , CM000678.2:g.11281509_11281510insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | GRCh38 |
NC_000016.9:g.11375366_11375367insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT , CM000678.1:g.11375366_11375367insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | GRCh37 |
NC_000016.8:g.11282867_11282868insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649869.1:n.152+31731_152+31732insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | ||
ENST00000572173.1:c.-515-13707_-515-13706insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | ENSP00000461206.1:n.-515-13707_-515-13706... | |
ENST00000573910.1:n.160+31731_160+31732insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | ||
XR_933070.1:n.733+31731_733+31732insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT | ||
XR_933070.3:n.876+31731_876+31732insCAGGGCGGGTGGAGCAGGGAGCAGCTGTGCCATGGGTGGGGGGCTTCCTTGTGGGCTGATGCTTTGGAACTT |