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:
CA580968572
Gene:
Linked Data
dbSNP Id:
rs1252854658
gnomAD v2:
8-30585716-G-GAGAAATTTGCCTC
gnomAD v3:
8-30728199-G-GAGAAATTTGCCTC
gnomAD v4:
8-30728199-G-GAGAAATTTGCCTC
MyVariant Identifiers:
chr8:g.30585716_30585717insAGAAATTTGCCTC (hg19)
chr8:g.30728199_30728200insAGAAATTTGCCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30728200_30728212dup , CM000670.2:g.30728200_30728212dup | GRCh38 |
| NC_000008.10:g.30585717_30585729dup , CM000670.1:g.30585717_30585729dup | GRCh37 |
| NC_000008.9:g.30705259_30705271dup | NCBI36 |
| NG_027719.1:g.4758_4770dup |