HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC | GRCh38 |
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC | GRCh37 |
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC | NCBI36 |
NG_015885.1:g.35966_35967insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC MANE Select | ENSP00000270349.9:n.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCC... | |
ENST00000270349.11:c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC | ENSP00000270349.9:n.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCC... | |
NM_001044.4:c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC | NP_001035.1:n.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCAC... | |
NM_001044.5:c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC MANE Select | NP_001035.1:n.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCAC... |