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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:
CA4655533
Gene: LPL
HGNC
NCBI
Linked Data
dbSNP Id:
rs763904323
ExAC:
8:19813339 CT / C
gnomAD v2:
8-19813339-CT-C
gnomAD v4:
8-19955828-CT-C
MyVariant Identifiers:
chr8:g.19813340del (hg19)
chr8:g.19955829del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955834del , CM000670.2:g.19955834del
GRCh38
NC_000008.10:g.19813345del , CM000670.1:g.19813345del
GRCh37
NC_000008.9:g.19857625del
NCBI36
NG_008855.1:g.21764del
NG_008855.2:g.59118del
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.776-7del
MANE Select
ENSP00000497642.1:n.776-7del
ENST00000311322.8:c.776-7del
ENSP00000309757.6:n.776-7del
NM_000237.2:c.776-7del
NP_000228.1:n.776-7del
NM_000237.3:c.776-7del
MANE Select
NP_000228.1:n.776-7del
Search 100 bp 5'
Search 100 bp 3'