HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869113_240869114insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.2:g.240869113_240869114insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | GRCh38 |
NC_000002.11:g.241808530_241808531insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.1:g.241808530_241808531insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | GRCh37 |
NC_000002.10:g.241457203_241457204insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | NCBI36 |
NG_008005.1:g.5369_5370insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select | ENSP00000302620.3:n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCT... | |
ENST00000307503.3:c.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | ENSP00000302620.3:n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCT... | |
ENST00000472436.1:n.186-57_186-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | ||
NM_000030.2:c.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | NP_000021.1:n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCC... | |
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | ||
NM_000030.3:c.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select | NP_000021.1:n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCC... |