HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC | GRCh38 |
NC_000005.9:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC | GRCh37 |
NC_000005.8:g.1467574_1467575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC | NCBI36 |
NG_015885.1:g.36029_36030insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC MANE Select | ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCT... | |
ENST00000270349.11:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC | ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCT... | |
NM_001044.4:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC | NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCT... | |
NM_001044.5:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCC MANE Select | NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCT... |