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:
CA590133610
Gene:
Linked Data
dbSNP Id:
rs1260641581
gnomAD v2:
9-117083730-T-TTTTG
gnomAD v3:
9-114321450-T-TTTTG
gnomAD v4:
9-114321450-T-TTTTG
MyVariant Identifiers:
chr9:g.117083730_117083731insTTTG (hg19)
chr9:g.114321450_114321451insTTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114321466_114321469dup , CM000671.2:g.114321466_114321469dup | GRCh38 |
| NC_000009.11:g.117083746_117083749dup , CM000671.1:g.117083746_117083749dup | GRCh37 |
| NC_000009.10:g.116123567_116123570dup | NCBI36 |
| NG_012108.1:g.3444_3447dup |