Linked Data
ClinVar Variation Id:
1576934
ClinVar RCV Id:
RCV002085615
dbSNP Id:
rs536204964
ExAC:
17:7357850 TCTC / T
gnomAD v2:
17-7357850-TCTC-T
gnomAD v3:
17-7454531-TCTC-T
gnomAD v4:
17-7454531-TCTC-T
MyVariant Identifiers:
chr17:g.7357851_7357853del (hg19)
chr17:g.7454533_7454535del (hg38)
chr17:g.7454532_7454534del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454539_7454541del , CM000679.2:g.7454539_7454541del | GRCh38 |
| NC_000017.10:g.7357858_7357860del , CM000679.1:g.7357858_7357860del | GRCh37 |
| NC_000017.9:g.7298582_7298584del | NCBI36 |
| NG_008026.1:g.14453_14455del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+19_1044+21del MANE Select | ENSP00000304290.2:n.1044+19_1044+21del | |
| ENST00000306071.6:c.1044+19_1044+21del | ENSP00000304290.2:n.1044+19_1044+21del | |
| ENST00000536404.6:c.828+19_828+21del | ENSP00000439209.2:n.828+19_828+21del | |
| ENST00000570557.5:c.707+19_707+21del | ||
| ENST00000573209.1:n.1988+19_1988+21del | ||
| ENST00000576360.1:c.681+19_681+21del | ENSP00000459092.1:n.681+19_681+21del | |
| NM_000747.2:c.1044+19_1044+21del | NP_000738.2:n.1044+19_1044+21del | |
| NM_000747.3:c.1044+19_1044+21del MANE Select | NP_000738.2:n.1044+19_1044+21del |