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:
CA556255975
Gene:
Linked Data
dbSNP Id:
rs1431211242
gnomAD v2:
4-161028727-C-CTCAA
gnomAD v3:
4-160107575-C-CTCAA
gnomAD v4:
4-160107575-C-CTCAA
MyVariant Identifiers:
chr4:g.161028727_161028728insTCAA (hg19)
chr4:g.160107575_160107576insTCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.160107577_160107580dup , CM000666.2:g.160107577_160107580dup | GRCh38 |
| NC_000004.11:g.161028729_161028732dup , CM000666.1:g.161028729_161028732dup | GRCh37 |
| NC_000004.10:g.161248179_161248182dup | NCBI36 |