Linked Data
ClinVar Variation Id:
283615
ClinVar RCV Id:
RCV000414862
RCV000415795
RCV000989733
RCV000784899
RCV001081143
RCV001352942
RCV001199370
RCV003939980
dbSNP Id:
rs552184470
ExAC:
17:7906488 CCTGCTT / C
gnomAD v2:
17-7906488-CCTGCTT-C
gnomAD v3:
17-8003170-CCTGCTT-C
gnomAD v4:
17-8003170-CCTGCTT-C
MyVariant Identifiers:
chr17:g.7906494_7906499del (hg19)
chr17:g.7906489_7906494del (hg19)
chr17:g.8003176_8003181del (hg38)
chr17:g.8003171_8003176del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003176_8003181del , CM000679.2:g.8003176_8003181del | GRCh38 |
| NC_000017.10:g.7906494_7906499del , CM000679.1:g.7906494_7906499del | GRCh37 |
| NC_000017.9:g.7847219_7847224del | NCBI36 |
| NG_009092.1:g.5507_5512del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.129_134del MANE Select | ENSP00000254854.4:p.Leu44_Leu45del | |
| ENST00000254854.4:c.129_134del | ENSP00000254854.4:p.Leu44_Leu45del | |
| NM_000180.3:c.129_134del | NP_000171.1:p.Leu44_Leu45del | |
| XM_011523816.1:c.129_134del | XP_011522118.1:p.Leu44_Leu45del | |
| NM_000180.4:c.129_134del MANE Select | NP_000171.1:p.Leu44_Leu45del |