UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA747277394
Gene:
Linked Data
dbSNP Id:
rs1248318413
gnomAD v3:
21-15440807-T-TTAC
gnomAD v4:
21-15440807-T-TTAC
MyVariant Identifiers:
chr21:g.16813126_16813127insTAC (hg19)
chr21:g.15440807_15440808insTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.15440808_15440810dup , CM000683.2:g.15440808_15440810dup | GRCh38 |
| NC_000021.8:g.16813127_16813129dup , CM000683.1:g.16813127_16813129dup | GRCh37 |
| NC_000021.7:g.15734998_15735000dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_937593.1:n.552+416_552+418dup | ||
| XR_001754965.2:n.468+3214_468+3216dup | ||
| XR_001754970.2:n.468+3214_468+3216dup | ||
| XR_001754971.2:n.468+3214_468+3216dup |