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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:
CA2611238769
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461591-CCCGGCGCCGCTCTCCGGCCCTCGCCCTGTCCGCCG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461594_122461628del , CM000672.2:g.122461594_122461628del
GRCh38
NC_000010.10:g.124221110_124221144del , CM000672.1:g.124221110_124221144del
GRCh37
NC_000010.9:g.124211100_124211134del
NCBI36
NG_011554.1:g.5070_5104del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368984.8:c.-59_-25del
MANE Select
ENSP00000357980.3:n.-59_-25del
ENST00000648167.1:c.154+2885_154+2919del
ENSP00000498033.1:n.154+2885_154+2919del
ENST00000368984.7:c.-59_-25del
ENSP00000357980.3:n.-59_-25del
NM_002775.4:c.-59_-25del
NP_002766.1:n.-59_-25del
NM_002775.5:c.-59_-25del
MANE Select
NP_002766.1:n.-59_-25del
Search 100 bp 5'
Search 100 bp 3'