Canonical Allele Identifier:
CA727901177
Gene:
Linked Data
dbSNP Id:
rs1401905146
gnomAD v3:
17-30237423-T-TGCA
gnomAD v4:
17-30237423-T-TGCA
MyVariant Identifiers:
chr17:g.28564441_28564442insGCA (hg19)
chr17:g.30237423_30237424insGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237425_30237427dup , CM000679.2:g.30237425_30237427dup | GRCh38 |
| NC_000017.10:g.28564443_28564445dup , CM000679.1:g.28564443_28564445dup | GRCh37 |
| NC_000017.9:g.25588569_25588571dup | NCBI36 |
| NG_011747.2:g.3511_3513dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934654.1:n.166-217_166-215dup | ||
| XR_001752824.1:n.281-217_281-215dup |