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:
CA736365295
Gene:
Linked Data
dbSNP Id:
rs1403185570
gnomAD v3:
1-47553521-A-AAATG
gnomAD v4:
1-47553521-A-AAATG
MyVariant Identifiers:
chr1:g.48019193_48019194insAATG (hg19)
chr1:g.47553521_47553522insAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47553534_47553537dup , CM000663.2:g.47553534_47553537dup | GRCh38 |
| NC_000001.10:g.48019206_48019209dup , CM000663.1:g.48019206_48019209dup | GRCh37 |
| NC_000001.9:g.47791793_47791796dup | NCBI36 |