Linked Data
ClinVar Variation Id:
1258542
ClinVar RCV Id:
RCV001671072
dbSNP Id:
rs11476145
gnomAD v2:
20-44645266-CA-C
gnomAD v3:
20-46016627-CA-C
gnomAD v4:
20-46016627-CA-C
MyVariant Identifiers:
chr20:g.44645270del (hg19)
chr20:g.44645267del (hg19)
chr20:g.46016631del (hg38)
chr20:g.46016628del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016644del , CM000682.2:g.46016644del | GRCh38 |
| NC_000020.10:g.44645283del , CM000682.1:g.44645283del | GRCh37 |
| NC_000020.9:g.44078690del | NCBI36 |
| NG_011468.1:g.12737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147699.1:n.669-1840del |