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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:
CA3419853
Gene: LECT2
HGNC
NCBI
Linked Data
dbSNP Id:
rs763867467
ExAC:
5:135288558 AC / A
gnomAD v2:
5-135288558-AC-A
gnomAD v4:
5-135952869-AC-A
MyVariant Identifiers:
chr5:g.135288559del (hg19)
chr5:g.135952870del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.135952871del , CM000667.2:g.135952871del
GRCh38
NC_000005.9:g.135288560del , CM000667.1:g.135288560del
GRCh37
NC_000005.8:g.135316459del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274507.6:c.143+1del
ENST00000274507.5:c.143+1del
ENST00000471827.1:n.246+1del
ENST00000512872.1:c.-74+1del
ENST00000514447.2:c.143+1del
ENST00000522943.5:c.143+1del
NM_002302.2:c.143+1del
NM_002302.3:c.143+1del
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