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:
CA598231403
Gene:
Linked Data
dbSNP Id:
rs1565001569
gnomAD v2:
11-27744859-T-TGGTG
gnomAD v3:
11-27723312-T-TGGTG
gnomAD v4:
11-27723312-T-TGGTG
MyVariant Identifiers:
chr11:g.27744859_27744860insGGTG (hg19)
chr11:g.27723312_27723313insGGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27723314_27723317dup , CM000673.2:g.27723314_27723317dup | GRCh38 |
| NC_000011.9:g.27744861_27744864dup , CM000673.1:g.27744861_27744864dup | GRCh37 |
| NC_000011.8:g.27701437_27701440dup | NCBI36 |
| NG_011794.1:g.3743_3746dup |