HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414491_1414492insGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTCGGTGTGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGG , CM000667.2:g.1414491_1414492insGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTCGGTGTGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGG | GRCh38 |
NC_000005.9:g.1414606_1414607insGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTCGGTGTGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGG , CM000667.1:g.1414606_1414607insGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTCGGTGTGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGG | GRCh37 |
NC_000005.8:g.1467606_1467607insGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTCGGTGTGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGG | NCBI36 |
NG_015885.1:g.35937_35938insCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCACACCGAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCACACCGAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select | ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCA... | |
ENST00000270349.11:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCACACCGAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCC | ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCA... | |
NM_001044.4:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCACACCGAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCC | NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGTGCCT... | |
NM_001044.5:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCACACCGAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select | NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGTGCCT... |