HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414512_1414513insGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGG , CM000667.2:g.1414512_1414513insGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGG | GRCh38 |
NC_000005.9:g.1414627_1414628insGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGG , CM000667.1:g.1414627_1414628insGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGG | GRCh37 |
NC_000005.8:g.1467627_1467628insGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGG | NCBI36 |
NG_015885.1:g.35918_35919insAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCC MANE Select | ENSP00000270349.9:n.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACC... | |
ENST00000270349.11:c.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCC | ENSP00000270349.9:n.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACC... | |
NM_001044.4:c.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCC | NP_001035.1:n.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACCCTCCAG... | |
NM_001044.5:c.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTTCCTGCCCC MANE Select | NP_001035.1:n.1156+180_1156+181insAGCGCCTTCCCCGCCCTGACCCTCCAG... |