Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16735396_16735414delinsCTCAGCCAAAATGAACTGT , CM000673.2:g.16735396_16735414delinsCTCAGCCAAAATGAACTGT | GRCh38 |
| NC_000011.9:g.16756943_16756961delinsCTCAGCCAAAATGAACTGT , CM000673.1:g.16756943_16756961delinsCTCAGCCAAAATGAACTGT | GRCh37 |
| NC_000011.8:g.16713519_16713537delinsCTCAGCCAAAATGAACTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524520.5:n.353+925_353+943delinsACAGTTCATTTTGGCTGAG (SOX6) | ||
| ENST00000525259.1:n.267+925_267+943delinsACAGTTCATTTTGGCTGAG (SOX6) | ||
| ENST00000527893.5:n.405-9205_405-9187delinsCTCAGCCAAAATGAACTGT (C11orf58) | ||
| ENST00000530378.5:c.-335+925_-335+943delinsACAGTTCATTTTGGCTGAG (SOX6) | ENSP00000432577.1:n.-335+925_-335+943delinsACAGTTCATTTTGGCTGA... | |
| NM_001367872.1:c.-261+3011_-261+3029delinsACAGTTCATTTTGGCTGAG (SOX6) | NP_001354801.1:n.-261+3011_-261+3029delinsACAGTTCATTTTGGCTGAG... |