HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414518_1414519insGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGG | GRCh38 |
NC_000005.9:g.1414633_1414634insGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGG | GRCh37 |
NC_000005.8:g.1467633_1467634insGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGG | NCBI36 |
NG_015885.1:g.35921_35922insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCT... | |
ENST00000270349.11:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAG | ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCT... | |
NM_001044.4:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAG | NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGC... | |
NM_001044.5:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGC... |