Linked Data
ClinVar Variation Id:
13857
ClinVar RCV Id:
RCV000014871
dbSNP Id:
rs121913234
COSMIC:
COSM1163
CIViC:
CA123524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727416_54727442del , CM000666.2:g.54727416_54727442del | GRCh38 |
| NC_000004.11:g.55593582_55593608del , CM000666.1:g.55593582_55593608del | GRCh37 |
| NC_000004.10:g.55288339_55288365del | NCBI36 |
| NG_007456.1:g.74422_74448del , LRG_307:g.74422_74448del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1639_1665del | ||
| ENST00000685269.1:n.1726_1752del | ||
| ENST00000686011.1:c.1636_1662del | ||
| ENST00000687109.1:c.1651_1677del | ||
| ENST00000687208.1:n.2063_2089del | ||
| ENST00000687246.1:c.1636_1662del | ||
| ENST00000687265.1:n.1806_1832del | ||
| ENST00000687295.1:c.1636_1662del | ||
| ENST00000689832.1:c.1651_1677del | ||
| ENST00000689994.1:c.1138_1164del | ||
| ENST00000690543.1:c.1639_1665del | ||
| ENST00000690917.1:n.1866_1892del | ||
| ENST00000691361.1:n.558_584del | ||
| ENST00000692783.1:c.1648_1674del | ||
| ENST00000692991.1:n.1745_1771del | ||
| ENST00000288135.6:c.1648_1674del | ||
| ENST00000288135.5:c.1648_1674del | ||
| ENST00000412167.6:c.1636_1662del | ||
| NM_000222.2:c.1648_1674del , LRG_307t1:c.1648_1674del | ||
| NM_001093772.1:c.1636_1662del | ||
| XM_005265740.1:c.1651_1677del | ||
| XM_005265741.1:c.1651_1677del | ||
| XM_005265742.1:c.1639_1665del | ||
| XM_005265742.3:c.1639_1665del | ||
| XM_017008178.1:c.1648_1674del | ||
| XM_017008179.1:c.1639_1665del | ||
| XM_017008180.1:c.1636_1662del | ||
| NM_000222.3:c.1648_1674del | ||
| NM_001093772.2:c.1636_1662del | ||
| NM_001385284.1:c.1651_1677del | ||
| NM_001385285.1:c.1648_1674del | ||
| NM_001385286.1:c.1636_1662del | ||
| NM_001385288.1:c.1639_1665del | ||
| NM_001385290.1:c.1651_1677del | ||
| NM_001385292.1:c.1639_1665del |