Linked Data
ClinVar Variation Id:
524205
ClinVar RCV Id:
RCV000678244
dbSNP Id:
rs1553225179
gnomAD v4:
1-197117879-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197117880dup , CM000663.2:g.197117880dup | GRCh38 |
| NC_000001.10:g.197087010dup , CM000663.1:g.197087010dup | GRCh37 |
| NC_000001.9:g.195353633dup | NCBI36 |
| NG_015867.1:g.33815dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2016dup | ||
| ENST00000367409.9:c.3974dup MANE Select | ENSP00000356379.4:p.Tyr1325Ter | |
| ENST00000680265.1:c.3974dup | ENSP00000505384.1:p.Tyr1325Ter | |
| ENST00000680710.1:c.3974dup | ENSP00000506676.1:p.Tyr1325Ter | |
| ENST00000681879.1:c.4022dup | ENSP00000505363.1:n.4022dup | |
| ENST00000294732.11:c.3974dup | ENSP00000294732.7:p.Tyr1325Ter | |
| ENST00000367408.5:c.1724dup | ENSP00000356378.1:p.Tyr575Ter | |
| ENST00000367409.8:c.3974dup | ENSP00000356379.4:p.Tyr1325Ter | |
| ENST00000612785.1:c.562-15233dup | ENSP00000479244.1:n.562-15233dup | |
| NM_001206846.1:c.3974dup | NP_001193775.1:p.Tyr1325Ter | |
| NM_018136.4:c.3974dup | NP_060606.3:p.Tyr1325Ter | |
| NM_018136.5:c.3974dup MANE Select | NP_060606.3:p.Tyr1325Ter | |
| NM_001206846.2:c.3974dup | NP_001193775.1:p.Tyr1325Ter |