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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:
CA2701488580
Gene: XRCC5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2106003980
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.216122018del , CM000664.2:g.216122018del
GRCh38
NC_000002.11:g.216986741del , CM000664.1:g.216986741del
GRCh37
NC_000002.10:g.216694986del
NCBI36
NG_029780.1:g.17722del
Transcript Alleles
HGVS
Amino-acid change
ENST00000392132.7:c.492-44del
MANE Select
ENSP00000375977.2:n.492-44del
ENST00000392132.6:c.492-44del
ENSP00000375977.2:n.492-44del
ENST00000392133.7:c.492-44del
ENSP00000375978.3:n.492-44del
ENST00000460284.5:n.1034-44del
NM_021141.3:c.492-44del
NP_066964.1:n.492-44del
NM_021141.4:c.492-44del
MANE Select
NP_066964.1:n.492-44del
Search 100 bp 5'
Search 100 bp 3'