HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.2:g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | GRCh38 |
NC_000002.11:g.241808530_241808531insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.1:g.241808530_241808531insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | GRCh37 |
NC_000002.10:g.241457203_241457204insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | NCBI36 |
NG_008005.1:g.5369_5370insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select | ENSP00000302620.3:n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCT... | |
ENST00000307503.3:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | ENSP00000302620.3:n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCT... | |
ENST00000472436.1:n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | ||
NM_000030.2:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | NP_000021.1:n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCC... | |
XR_924060.1:n.405+1147_405+1148insATGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAT | ||
NM_000030.3:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select | NP_000021.1:n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCC... |