HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414452_1414453insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.2:g.1414452_1414453insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG | GRCh38 |
NC_000005.9:g.1414567_1414568insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.1:g.1414567_1414568insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG | GRCh37 |
NC_000005.8:g.1467567_1467568insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG | NCBI36 |
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC MANE Select | ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTT... | |
ENST00000270349.11:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC | ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTT... | |
NM_001044.4:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC | NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGC... | |
NM_001044.5:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC MANE Select | NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGC... |