HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG | GRCh38 |
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG | GRCh37 |
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG | NCBI36 |
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select | ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTT... | |
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC | ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTT... | |
NM_001044.4:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC | NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGC... | |
NM_001044.5:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC MANE Select | NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGC... |