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:
CA34082610
Gene:
Linked Data
dbSNP Id:
rs977397687
gnomAD v2:
1-186650866-C-CAT
gnomAD v3:
1-186681734-C-CAT
gnomAD v4:
1-186681734-C-CAT
MyVariant Identifiers:
chr1:g.186650866_186650867insAT (hg19)
chr1:g.186681734_186681735insAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186681744_186681745dup , CM000663.2:g.186681744_186681745dup | GRCh38 |
| NC_000001.10:g.186650876_186650877dup , CM000663.1:g.186650876_186650877dup | GRCh37 |
| NC_000001.9:g.184917499_184917500dup | NCBI36 |
| NG_028206.2:g.3692_3693dup |