Linked Data
dbSNP Id:
rs966704166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19626796_19626797del , CM000674.2:g.19626796_19626797del | GRCh38 |
| NC_000012.11:g.19779730_19779731del , CM000674.1:g.19779730_19779731del | GRCh37 |
| NC_000012.10:g.19670997_19670998del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-93837_339-93836del | ENSP00000445587.1:n.339-93837_339-93836del | |
| XR_242921.2:n.252+23483_252+23484del | ||
| XR_931408.1:n.76+790_76+791del | ||
| XR_001749034.2:n.472-23600_472-23599del | ||
| XR_001749035.1:n.525+23483_525+23484del | ||
| XR_001749036.1:n.526-22902_526-22901del | ||
| XR_001749037.1:n.275+23483_275+23484del | ||
| XR_002957408.1:n.133+790_133+791del |