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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:
CA2671575211
Gene: NFKB1
HGNC
NCBI
Linked Data
gnomAD v4:
4-102501349-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501352del , CM000666.2:g.102501352del
GRCh38
NC_000004.11:g.103422509del , CM000666.1:g.103422509del
GRCh37
NC_000004.10:g.103641541del
NCBI36
NG_050628.1:g.5024del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507079.6:c.-490del
ENSP00000426147.2:n.-490del
ENST00000226574.8:c.-444del
ENSP00000226574.4:n.-444del
ENST00000394820.8:c.-444del
ENSP00000378297.4:n.-444del
NM_001165412.1:c.-444del
NP_001158884.1:n.-444del
NM_003998.3:c.-444del
NP_003989.2:n.-444del
XM_011532467.1:c.542del
XP_011530769.1:p.Phe181SerfsTer?
NR_136202.1:n.48+1089del
XM_024454067.1:c.-490del
XP_024309835.1:n.-490del
XM_024454069.1:c.-490del
XP_024309837.1:n.-490del
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