Linked Data
dbSNP Id:
rs1571892157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431469_229431471dup , CM000663.2:g.229431469_229431471dup | GRCh38 |
| NC_000001.10:g.229567216_229567218dup , CM000663.1:g.229567216_229567218dup | GRCh37 |
| NC_000001.9:g.227633839_227633841dup | NCBI36 |
| NG_006672.1:g.7626_7628dup , LRG_429:g.7626_7628dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*28_*30dup | ENSP00000355644.4:n.*28_*30dup | |
| ENST00000684723.1:c.*28_*30dup | ENSP00000508084.1:n.*28_*30dup | |
| ENST00000366683.3:c.*28_*30dup | ENSP00000355644.3:n.*28_*30dup | |
| ENST00000366684.7:c.*28_*30dup MANE Select | ENSP00000355645.3:n.*28_*30dup | |
| NM_001100.3:c.*28_*30dup , LRG_429t1:c.*28_*30dup | NP_001091.1:n.*28_*30dup | |
| NM_001100.4:c.*28_*30dup MANE Select | NP_001091.1:n.*28_*30dup |