HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG , CM000667.2:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG | GRCh38 |
NC_000005.9:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG , CM000667.1:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG | GRCh37 |
NC_000005.8:g.1467576_1467577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG | NCBI36 |
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC MANE Select | ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTT... | |
ENST00000270349.11:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC | ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTT... | |
NM_001044.4:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC | NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGC... | |
NM_001044.5:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC MANE Select | NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCCGC... |