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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA680801467
Gene:
Linked Data
dbSNP Id:
rs1482540829
gnomAD v3:
11-80851727-TAC-T
gnomAD v4:
11-80851727-TAC-T
MyVariant Identifiers:
chr11:g.80562771_80562772del (hg19)
chr11:g.80851728_80851729del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.80851731_80851732del , CM000673.2:g.80851731_80851732del
GRCh38
NC_000011.9:g.80562774_80562775del , CM000673.1:g.80562774_80562775del
GRCh37
NC_000011.8:g.80240422_80240423del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_247272.2:n.124+60562_124+60563del
Search 100 bp 5'
Search 100 bp 3'