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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:
CA2611238796
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461604-TCCGGCCC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461605_122461611del , CM000672.2:g.122461605_122461611del
GRCh38
NC_000010.10:g.124221121_124221127del , CM000672.1:g.124221121_124221127del
GRCh37
NC_000010.9:g.124211111_124211117del
NCBI36
NG_011554.1:g.5081_5087del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368984.8:c.-48_-42del
MANE Select
ENSP00000357980.3:n.-48_-42del
ENST00000648167.1:c.154+2896_154+2902del
ENSP00000498033.1:n.154+2896_154+2902del
ENST00000368984.7:c.-48_-42del
ENSP00000357980.3:n.-48_-42del
NM_002775.4:c.-48_-42del
NP_002766.1:n.-48_-42del
NM_002775.5:c.-48_-42del
MANE Select
NP_002766.1:n.-48_-42del
Search 100 bp 5'
Search 100 bp 3'