Linked Data
ClinVar Variation Id:
841029
ClinVar RCV Id:
RCV001043168
dbSNP Id:
rs1232519357
gnomAD v3:
3-10142913-C-CT
gnomAD v4:
3-10142913-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142915dup , CM000665.2:g.10142915dup | GRCh38 |
| NC_000003.11:g.10184599dup , CM000665.1:g.10184599dup | GRCh37 |
| NC_000003.10:g.10159599dup | NCBI36 |
| NG_008212.3:g.6281dup , LRG_322:g.6281dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.493dup | ENSP00000512434.1:p.Tyr165LeufsTer17 | |
| ENST00000696143.1:c.493dup | ENSP00000512435.1:p.Tyr165LeufsTer17 | |
| ENST00000696153.1:c.340+728dup | ENSP00000512444.1:n.340+728dup | |
| ENST00000256474.3:c.340+728dup MANE Select | ENSP00000256474.3:n.340+728dup | |
| ENST00000256474.2:c.340+728dup | ENSP00000256474.2:n.340+728dup | |
| ENST00000345392.2:c.340+728dup | ENSP00000344757.2:n.340+728dup | |
| ENST00000477538.1:n.370dup | ||
| NM_000551.3:c.340+728dup , LRG_322t1:c.340+728dup | NP_000542.1:n.340+728dup | |
| NM_198156.2:c.340+728dup | NP_937799.1:n.340+728dup | |
| XM_011534078.1:c.493dup | XP_011532380.1:p.Tyr165LeufsTer17 | |
| NM_001354723.1:c.493dup | NP_001341652.1:p.Tyr165LeufsTer17 | |
| NM_000551.4:c.340+728dup MANE Select | NP_000542.1:n.340+728dup | |
| NM_001354723.2:c.493dup | NP_001341652.1:p.Tyr165LeufsTer17 | |
| NM_198156.3:c.340+728dup | NP_937799.1:n.340+728dup |