HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414414_1414415insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG , CM000667.2:g.1414414_1414415insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG | GRCh38 |
NC_000005.9:g.1414529_1414530insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG , CM000667.1:g.1414529_1414530insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG | GRCh37 |
NC_000005.8:g.1467529_1467530insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG | NCBI36 |
NG_015885.1:g.36042_36043insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT MANE Select | ENSP00000270349.9:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGC... | |
ENST00000270349.11:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT | ENSP00000270349.9:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGC... | |
NM_001044.4:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT | NP_001035.1:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCA... | |
NM_001044.5:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT MANE Select | NP_001035.1:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCA... |