HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414507_1414508insGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA , CM000667.2:g.1414507_1414508insGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA | GRCh38 |
NC_000005.9:g.1414622_1414623insGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA , CM000667.1:g.1414622_1414623insGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA | GRCh37 |
NC_000005.8:g.1467622_1467623insGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCA | NCBI36 |
NG_015885.1:g.35921_35922insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACC MANE Select | ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCT... | |
ENST00000270349.11:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACC | ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCT... | |
NM_001044.4:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACC | NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGC... | |
NM_001044.5:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACC MANE Select | NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCTCCCGGC... |