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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:
CA2611246588
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122506593-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122506596del , CM000672.2:g.122506596del
GRCh38
NC_000010.10:g.124266112del , CM000672.1:g.124266112del
GRCh37
NC_000010.9:g.124256102del
NCBI36
NG_011554.1:g.50072del
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.778-95del
MANE Select
ENSP00000357980.3:n.778-95del
ENST00000648167.1:c.460-95del
ENSP00000498033.1:n.460-95del
ENST00000368984.7:c.778-95del
ENSP00000357980.3:n.778-95del
NM_002775.4:c.778-95del
NP_002766.1:n.778-95del
NM_002775.5:c.778-95del
MANE Select
NP_002766.1:n.778-95del
Search 100 bp 5'
Search 100 bp 3'