Linked Data
ClinVar Variation Id:
550130
ClinVar RCV Id:
RCV000664778
dbSNP Id:
rs1553778044
MyVariant Identifiers:
chr3:g.165829662dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829662dup , CM000665.2:g.165829662dup | GRCh38 |
| NC_000003.11:g.165547450dup , CM000665.1:g.165547450dup | GRCh37 |
| NC_000003.10:g.167030144dup | NCBI36 |
| NG_009031.1:g.12804dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1372dup MANE Select | ENSP00000264381.3:p.Trp458LeufsTer12 | |
| ENST00000264381.7:c.1372dup | ENSP00000264381.3:p.Trp458LeufsTer12 | |
| ENST00000479451.5:c.107+7652dup | ENSP00000418325.1:n.107+7652dup | |
| ENST00000482958.1:c.1372dup | ENSP00000419804.1:p.Trp458LeufsTer12 | |
| ENST00000488954.1:c.107+7652dup | ENSP00000418504.1:n.107+7652dup | |
| ENST00000497011.5:c.1372dup | ENSP00000419505.1:p.Trp458LeufsTer12 | |
| NM_000055.2:c.1372dup | NP_000046.1:p.Trp458LeufsTer12 | |
| XM_005247685.1:c.1495dup | XP_005247742.1:p.Trp499LeufsTer12 | |
| NM_000055.3:c.1372dup | NP_000046.1:p.Trp458LeufsTer12 | |
| NR_137635.1:n.159+7652dup | ||
| NR_137636.1:n.1539dup | ||
| NM_000055.4:c.1372dup MANE Select | NP_000046.1:p.Trp458LeufsTer12 | |
| NR_137635.2:n.110+7652dup | ||
| NR_137636.2:n.1490dup |