Linked Data
dbSNP Id:
rs11476145
gnomAD v3:
20-46016627-C-CAAA
gnomAD v4:
20-46016627-C-CAAA
MyVariant Identifiers:
chr20:g.44645266_44645267insAAA (hg19)
chr20:g.46016627_46016628insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016642_46016644dup , CM000682.2:g.46016642_46016644dup | GRCh38 |
| NC_000020.10:g.44645281_44645283dup , CM000682.1:g.44645281_44645283dup | GRCh37 |
| NC_000020.9:g.44078688_44078690dup | NCBI36 |
| NG_011468.1:g.12735_12737dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147699.1:n.669-1842_669-1840dup |