Linked Data
ClinVar Variation Id:
375474
ClinVar RCV Id:
RCV000416562
dbSNP Id:
rs1057519507
MyVariant Identifiers:
chr17:g.33903115_33903116dupAT (hg19)
chr17:g.33903114_33903115insAT (hg19)
chr17:g.35576096_35576097dupAT (hg38)
chr17:g.35576095_35576096insAT (hg38)
PubMed:
PMID:26094004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576097_35576098dup , CM000679.2:g.35576097_35576098dup | GRCh38 |
| NC_000017.10:g.33903116_33903117dup , CM000679.1:g.33903116_33903117dup | GRCh37 |
| NC_000017.9:g.30927229_30927230dup | NCBI36 |
| NG_008447.1:g.7541_7542dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225873.9:c.765_766dup MANE Select | ENSP00000225873.3:p.Phe256TyrfsTer22 | |
| ENST00000586663.2:c.765_766dup | ENSP00000466894.2:p.Phe256TyrfsTer22 | |
| ENST00000225873.8:c.765_766dup | ENSP00000225873.3:p.Phe256TyrfsTer22 | |
| ENST00000586663.1:c.765_766dup | ENSP00000466894.1:p.Phe256TyrfsTer22 | |
| ENST00000613219.4:c.765_766dup | ENSP00000482609.1:p.Phe256TyrfsTer22 | |
| NM_000286.2:c.765_766dup | NP_000277.1:p.Phe256TyrfsTer22 | |
| NM_000286.3:c.765_766dup MANE Select | NP_000277.1:p.Phe256TyrfsTer22 |