Linked Data
dbSNP Id:
rs1848383252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16735303_16735319del , CM000673.2:g.16735303_16735319del | GRCh38 |
| NC_000011.9:g.16756850_16756866del , CM000673.1:g.16756850_16756866del | GRCh37 |
| NC_000011.8:g.16713426_16713442del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524520.5:n.353+1021_353+1037del (SOX6) | ||
| ENST00000525259.1:n.267+1021_267+1037del (SOX6) | ||
| ENST00000527893.5:n.405-9298_405-9282del (C11orf58) | ||
| ENST00000530378.5:c.-335+1021_-335+1037del (SOX6) | ENSP00000432577.1:n.-335+1021_-335+1037del | |
| NM_001367872.1:c.-261+3107_-261+3123del (SOX6) | NP_001354801.1:n.-261+3107_-261+3123del |