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:
CA239221965
Gene:
Linked Data
dbSNP Id:
rs41269709
gnomAD v2:
12-72332214-A-ATAAAAAT
gnomAD v3:
12-71938434-A-ATAAAAAT
gnomAD v4:
12-71938434-A-ATAAAAAT
MyVariant Identifiers:
chr12:g.72332214_72332215insTAAAAAT (hg19)
chr12:g.71938434_71938435insTAAAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71938448_71938454dup , CM000674.2:g.71938448_71938454dup | GRCh38 |
| NC_000012.11:g.72332228_72332234dup , CM000674.1:g.72332228_72332234dup | GRCh37 |
| NC_000012.10:g.70618495_70618501dup | NCBI36 |
| NG_008279.1:g.4603_4609dup |