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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:
CA2686360410
Gene: LPL
HGNC
NCBI
Linked Data
gnomAD v4:
8-19954013-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19954015del , CM000670.2:g.19954015del
GRCh38
NC_000008.10:g.19811526del , CM000670.1:g.19811526del
GRCh37
NC_000008.9:g.19855806del
NCBI36
NG_008855.1:g.19945del
NG_008855.2:g.57299del
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.542-105del
MANE Select
ENSP00000497642.1:n.542-105del
ENST00000311322.8:c.542-105del
ENSP00000309757.6:n.542-105del
ENST00000520959.5:c.314-105del
ENSP00000428496.1:n.314-105del
NM_000237.2:c.542-105del
NP_000228.1:n.542-105del
NM_000237.3:c.542-105del
MANE Select
NP_000228.1:n.542-105del
Search 100 bp 5'
Search 100 bp 3'