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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:
CA2579105904
Gene: LPL
HGNC
NCBI
Linked Data
gnomAD v4:
8-19960808-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19960811del , CM000670.2:g.19960811del
GRCh38
NC_000008.10:g.19818322del , CM000670.1:g.19818322del
GRCh37
NC_000008.9:g.19862602del
NCBI36
NG_008855.1:g.26741del
NG_008855.2:g.64095del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650287.1:c.1140-90del
MANE Select
ENSP00000497642.1:n.1140-90del
ENST00000650478.1:c.80-90del
ENSP00000497560.1:n.80-90del
ENST00000311322.8:c.1140-90del
ENSP00000309757.6:n.1140-90del
NM_000237.2:c.1140-90del
NP_000228.1:n.1140-90del
NM_000237.3:c.1140-90del
MANE Select
NP_000228.1:n.1140-90del
Search 100 bp 5'
Search 100 bp 3'