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:
CA772161179
Gene:
Linked Data
dbSNP Id:
rs1364851047
gnomAD v3:
17-43039489-T-TAGAG
gnomAD v4:
17-43039489-T-TAGAG
MyVariant Identifiers:
chr17:g.41191506_41191507insAGAG (hg19)
chr17:g.43039489_43039490insAGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43039491_43039494dup , CM000679.2:g.43039491_43039494dup | GRCh38 |
| NC_000017.10:g.41191508_41191511dup , CM000679.1:g.41191508_41191511dup | GRCh37 |
| NC_000017.9:g.38445034_38445037dup | NCBI36 |
| NG_005905.2:g.178491_178494dup , LRG_292:g.178491_178494dup |