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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:
CA2362966306
Gene: LBP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.38349244_38349247delinsCAAG , CM000682.2:g.38349244_38349247delinsCAAG
GRCh38
NC_000020.10:g.36977647_36977650delinsCAAG , CM000682.1:g.36977647_36977650delinsCAAG
GRCh37
NC_000020.9:g.36411061_36411064delinsCAAG
NCBI36
NG_034239.1:g.7834_7837delinsCAAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000217407.3:c.125-304_125-301delinsCAAG
MANE Select
ENSP00000217407.2:n.125-304_125-301delinsCAAG
ENST00000217407.2:c.125-304_125-301delinsCAAG
ENSP00000217407.2:n.125-304_125-301delinsCAAG
NM_004139.4:c.125-304_125-301delinsCAAG
NP_004130.2:n.125-304_125-301delinsCAAG
NM_004139.5:c.125-304_125-301delinsCAAG
MANE Select
NP_004130.2:n.125-304_125-301delinsCAAG
Search 100 bp 5'
Search 100 bp 3'