Linked Data
ClinVar Variation Id:
16616
ClinVar RCV Id:
RCV000018091
dbSNP Id:
rs397518446
ExAC:
17:56277584 A / AG
gnomAD v2:
17-56277584-A-AG
gnomAD v3:
17-58200223-A-AG
gnomAD v4:
17-58200223-A-AG
MyVariant Identifiers:
chr17:g.56277589dupG (hg19)
chr17:g.56277584_56277585insG (hg19)
chr17:g.58200228dupG (hg38)
chr17:g.58200223_58200224insG (hg38)
PubMed:
PMID:7809065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58200228dup , CM000679.2:g.58200228dup | GRCh38 |
| NC_000017.10:g.56277589dup , CM000679.1:g.56277589dup | GRCh37 |
| NC_000017.9:g.53632588dup | NCBI36 |
| NG_013020.1:g.12501dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225371.6:c.1541dup | ||
| ENST00000225371.5:c.1541dup | ||
| NM_000502.4:c.1541dup | ||
| NM_000502.5:c.1541dup | ||
| NM_000502.6:c.1541dup |