Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16735337_16735338insTGGTTAGAGA , CM000673.2:g.16735337_16735338insTGGTTAGAGA | GRCh38 |
| NC_000011.9:g.16756884_16756885insTGGTTAGAGA , CM000673.1:g.16756884_16756885insTGGTTAGAGA | GRCh37 |
| NC_000011.8:g.16713460_16713461insTGGTTAGAGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524520.5:n.353+1001_353+1002insTCTCTAACCA (SOX6) | ||
| ENST00000525259.1:n.267+1001_267+1002insTCTCTAACCA (SOX6) | ||
| ENST00000527893.5:n.405-9264_405-9263insTGGTTAGAGA (C11orf58) | ||
| ENST00000530378.5:c.-335+1001_-335+1002insTCTCTAACCA (SOX6) | ENSP00000432577.1:n.-335+1001_-335+1002insTCTCTAACCA | |
| NM_001367872.1:c.-261+3087_-261+3088insTCTCTAACCA (SOX6) | NP_001354801.1:n.-261+3087_-261+3088insTCTCTAACCA |