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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:
CA151225586
Gene: LPA
HGNC
NCBI
Linked Data
dbSNP Id:
rs564017977
gnomAD v2:
6-160969752-AC-A
gnomAD v3:
6-160548720-AC-A
gnomAD v4:
6-160548720-AC-A
MyVariant Identifiers:
chr6:g.160969753del (hg19)
chr6:g.160548721del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160548723del , CM000668.2:g.160548723del
GRCh38
NC_000006.11:g.160969755del , CM000668.1:g.160969755del
GRCh37
NC_000006.10:g.160889745del
NCBI36
NG_016147.1:g.122655del
Transcript Alleles
HGVS
Amino-acid change
ENST00000316300.10:c.4974-62del
MANE Select
ENSP00000321334.6:n.4974-62del
ENST00000316300.9:c.4974-62del
ENSP00000321334.5:n.4974-62del
NM_005577.2:c.4974-62del
NP_005568.2:n.4974-62del
NM_005577.3:c.4974-62del
NP_005568.2:n.4974-62del
NM_005577.4:c.4974-62del
MANE Select
NP_005568.2:n.4974-62del
Search 100 bp 5'
Search 100 bp 3'