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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:
CA535231706
Gene: IL1RN
HGNC
NCBI
Linked Data
dbSNP Id:
rs1205585825
gnomAD v2:
2-113863884-TA-T
gnomAD v3:
2-113106307-TA-T
gnomAD v4:
2-113106307-TA-T
MyVariant Identifiers:
chr2:g.113863885del (hg19)
chr2:g.113106308del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.113106309del , CM000664.2:g.113106309del
GRCh38
NC_000002.11:g.113863886del , CM000664.1:g.113863886del
GRCh37
NC_000002.10:g.113580357del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000409052.6:c.-471-4807del
ENSP00000387210.1:n.-471-4807del
ENST00000463073.6:n.104-4807del
ENST00000465812.6:n.276-905del
XM_011511121.1:c.-471-4807del
XP_011509423.1:n.-471-4807del
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