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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:
CA535231713
Gene: IL1RN
HGNC
NCBI
Linked Data
dbSNP Id:
rs1470018637
gnomAD v2:
2-113863992-TA-T
gnomAD v3:
2-113106415-TA-T
gnomAD v4:
2-113106415-TA-T
MyVariant Identifiers:
chr2:g.113863993del (hg19)
chr2:g.113106416del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.113106419del , CM000664.2:g.113106419del
GRCh38
NC_000002.11:g.113863996del , CM000664.1:g.113863996del
GRCh37
NC_000002.10:g.113580467del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000409052.6:c.-471-4697del
ENSP00000387210.1:n.-471-4697del
ENST00000463073.6:n.104-4697del
ENST00000465812.6:n.276-795del
XM_011511121.1:c.-471-4697del
XP_011509423.1:n.-471-4697del
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