Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712348_181712403del , CM000665.2:g.181712348_181712403del | GRCh38 |
| NC_000003.11:g.181430136_181430191del , CM000665.1:g.181430136_181430191del | GRCh37 |
| NC_000003.10:g.182912830_182912885del | NCBI36 |
| NG_009080.1:g.5415_5470del , LRG_719:g.5415_5470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.-13_43del (SOX2) | ||
| ENST00000325404.2:c.-13_43del (SOX2) | ||
| NM_003106.3:c.-13_43del (SOX2) | ||
| NR_004053.3:n.768-2837_768-2782del (SOX2-OT) | ||
| NR_075089.1:n.767+12465_767+12520del (SOX2-OT) | ||
| NR_075090.1:n.482-27221_482-27166del (SOX2-OT) | ||
| NR_075091.1:n.783-2837_783-2782del (SOX2-OT) | ||
| NR_075092.1:n.782+12465_782+12520del (SOX2-OT) | ||
| NR_075093.1:n.473-27221_473-27166del (SOX2-OT) | ||
| NM_003106.4:c.-13_43del (SOX2) |