HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414486_1414487insGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGCGCTGGGTGGGGGGCCGGG | GRCh38 |
NC_000005.9:g.1414601_1414602insGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGCGCTGGGTGGGGGGCCGGG | GRCh37 |
NC_000005.8:g.1467601_1467602insGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGCGCTGGGTGGGGGGCCGGG | NCBI36 |
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGCGCCTTCCCCTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCCTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCC MANE Select | ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTT... | |
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCCTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCC | ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTT... | |
NM_001044.4:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCCTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCC | NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCCTC... | |
NM_001044.5:c.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCCTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCC MANE Select | NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGCGCCTTCCCCTC... |