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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:
CA1769104450
Gene: LPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955828_19955829delinsCT , CM000670.2:g.19955828_19955829delinsCT
GRCh38
NC_000008.10:g.19813339_19813340delinsCT , CM000670.1:g.19813339_19813340delinsCT
GRCh37
NC_000008.9:g.19857619_19857620delinsCT
NCBI36
NG_008855.1:g.21758_21759delinsCT
NG_008855.2:g.59112_59113delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.776-13_776-12delinsCT
MANE Select
ENSP00000497642.1:n.776-13_776-12delinsCT
ENST00000311322.8:c.776-13_776-12delinsCT
ENSP00000309757.6:n.776-13_776-12delinsCT
NM_000237.2:c.776-13_776-12delinsCT
NP_000228.1:n.776-13_776-12delinsCT
NM_000237.3:c.776-13_776-12delinsCT
MANE Select
NP_000228.1:n.776-13_776-12delinsCT
Search 100 bp 5'
Search 100 bp 3'