Linked Data
dbSNP Id:
rs1322375480
gnomAD v2:
12-6580192-G-GCCCGCCCCTGC
MyVariant Identifiers:
chr12:g.6580192_6580193insCCCGCCCCTGC (hg19)
chr12:g.6471026_6471027insCCCGCCCCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471030_6471040dup , CM000674.2:g.6471030_6471040dup | GRCh38 |
| NC_000012.11:g.6580196_6580206dup , CM000674.1:g.6580196_6580206dup | GRCh37 |
| NC_000012.10:g.6450457_6450467dup | NCBI36 |
| NG_042188.1:g.4863_4873dup | |
| NG_042188.2:g.4863_4873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2297_2307dup | ||
| XR_001748778.2:n.2294_2304dup |