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:
CA766292915
Gene:
Linked Data
dbSNP Id:
rs1361014701
gnomAD v3:
2-233593487-A-AGGCT
gnomAD v4:
2-233593487-A-AGGCT
MyVariant Identifiers:
chr2:g.234502133_234502134insGGCT (hg19)
chr2:g.233593487_233593488insGGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233593488_233593491dup , CM000664.2:g.233593488_233593491dup | GRCh38 |
| NC_000002.11:g.234502134_234502137dup , CM000664.1:g.234502134_234502137dup | GRCh37 |
| NC_000002.10:g.234166873_234166876dup | NCBI36 |
| NG_002601.2:g.8745_8748dup |