Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16735401_16735408delinsCCAAAATG , CM000673.2:g.16735401_16735408delinsCCAAAATG | GRCh38 |
| NC_000011.9:g.16756948_16756955delinsCCAAAATG , CM000673.1:g.16756948_16756955delinsCCAAAATG | GRCh37 |
| NC_000011.8:g.16713524_16713531delinsCCAAAATG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524520.5:n.353+931_353+938delinsCATTTTGG (SOX6) | ||
| ENST00000525259.1:n.267+931_267+938delinsCATTTTGG (SOX6) | ||
| ENST00000527893.5:n.405-9200_405-9193delinsCCAAAATG (C11orf58) | ||
| ENST00000530378.5:c.-335+931_-335+938delinsCATTTTGG (SOX6) | ENSP00000432577.1:n.-335+931_-335+938delinsCATTTTGG | |
| NM_001367872.1:c.-261+3017_-261+3024delinsCATTTTGG (SOX6) | NP_001354801.1:n.-261+3017_-261+3024delinsCATTTTGG |