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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:
CA764677223
Gene: XRCC5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1249182457
MyVariant Identifiers:
chr2:g.217070298del (hg19)
chr2:g.216205575del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.216205576del , CM000664.2:g.216205576del
GRCh38
NC_000002.11:g.217070299del , CM000664.1:g.217070299del
GRCh37
NC_000002.10:g.216778544del
NCBI36
NG_029780.1:g.101280del
Transcript Alleles
HGVS
Amino-acid change
ENST00000392132.7:c.*374del
MANE Select
ENSP00000375977.2:n.*374del
ENST00000392132.6:c.*374del
ENSP00000375977.2:n.*374del
ENST00000392133.7:c.*374del
ENSP00000375978.3:n.*374del
NM_021141.3:c.*374del
NP_066964.1:n.*374del
NM_021141.4:c.*374del
MANE Select
NP_066964.1:n.*374del
Search 100 bp 5'
Search 100 bp 3'