Linked Data
dbSNP Id:
rs1232330488
gnomAD v2:
1-165448081-T-TATAAG
gnomAD v3:
1-165478844-T-TATAAG
gnomAD v4:
1-165478844-T-TATAAG
MyVariant Identifiers:
chr1:g.165448081_165448082insATAAG (hg19)
chr1:g.165478844_165478845insATAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165478847_165478851dup , CM000663.2:g.165478847_165478851dup | GRCh38 |
| NC_000001.10:g.165448084_165448088dup , CM000663.1:g.165448084_165448088dup | GRCh37 |
| NC_000001.9:g.163714708_163714712dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_026744.2:n.1530-1734_1530-1730dup |