HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC | GRCh38 |
NC_000005.9:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC | GRCh37 |
NC_000005.8:g.1467574_1467575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC | NCBI36 |
NG_015885.1:g.36006_36007insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC MANE Select | ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC... | |
ENST00000270349.11:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC | ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC... | |
NM_001044.4:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC | NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCC... | |
NM_001044.5:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC MANE Select | NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCC... |