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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:
CA2611238714
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461566-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461571dup , CM000672.2:g.122461571dup
GRCh38
NC_000010.10:g.124221087dup , CM000672.1:g.124221087dup
GRCh37
NC_000010.9:g.124211077dup
NCBI36
NG_011554.1:g.5047dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368984.8:c.-82dup
MANE Select
ENSP00000357980.3:n.-82dup
ENST00000648167.1:c.154+2862dup
ENSP00000498033.1:n.154+2862dup
ENST00000368984.7:c.-82dup
ENSP00000357980.3:n.-82dup
NM_002775.4:c.-82dup
NP_002766.1:n.-82dup
NM_002775.5:c.-82dup
MANE Select
NP_002766.1:n.-82dup
Search 100 bp 5'
Search 100 bp 3'