Linked Data
ClinVar Variation Id:
550659
dbSNP Id:
rs1554081886
MyVariant Identifiers:
chr4:g.186271708dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186271708dup , CM000666.2:g.186271708dup | GRCh38 |
| NC_000004.11:g.187192862dup , CM000666.1:g.187192862dup | GRCh37 |
| NC_000004.10:g.187429856dup | NCBI36 |
| NG_008051.1:g.10745dup , LRG_583:g.10745dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.155dup MANE Select | ENSP00000384957.2:p.Tyr52Ter | |
| ENST00000264692.8:c.155dup | ENSP00000264692.5:p.Tyr52Ter | |
| ENST00000403665.6:c.155dup | ENSP00000384957.2:p.Tyr52Ter | |
| ENST00000492972.6:c.155dup | ENSP00000424479.1:p.Tyr52Ter | |
| NM_000128.3:c.155dup , LRG_583t1:c.155dup | NP_000119.1:p.Tyr52Ter | |
| XM_005262821.2:c.155dup | XP_005262878.1:p.Tyr52Ter | |
| XM_005262822.2:c.155dup | XP_005262879.1:p.Tyr52Ter | |
| XM_005262823.2:c.155dup | XP_005262880.1:p.Tyr52Ter | |
| XM_005262824.1:c.155dup | XP_005262881.1:p.Tyr52Ter | |
| XM_006714137.1:c.155dup | XP_006714200.1:p.Tyr52Ter | |
| XR_938706.1:n.507dup | ||
| XR_938707.1:n.507dup | ||
| NM_001354804.1:c.155dup | NP_001341733.1:p.Tyr52Ter | |
| XM_005262821.4:c.155dup | XP_005262878.1:p.Tyr52Ter | |
| XM_005262822.4:c.155dup | XP_005262879.1:p.Tyr52Ter | |
| XM_005262823.4:c.155dup | XP_005262880.1:p.Tyr52Ter | |
| XM_006714137.3:c.155dup | XP_006714200.1:p.Tyr52Ter | |
| XM_017007884.2:c.155dup | XP_016863373.1:p.Tyr52Ter | |
| XM_017007885.2:c.155dup | XP_016863374.1:p.Tyr52Ter | |
| XM_017007886.2:c.155dup | XP_016863375.1:p.Tyr52Ter | |
| XR_001741172.2:n.488dup | ||
| NM_000128.4:c.155dup MANE Select | NP_000119.1:p.Tyr52Ter | |
| NM_001354804.2:c.155dup | NP_001341733.1:p.Tyr52Ter |