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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:
CA2611238725
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461572-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461573del , CM000672.2:g.122461573del
GRCh38
NC_000010.10:g.124221089del , CM000672.1:g.124221089del
GRCh37
NC_000010.9:g.124211079del
NCBI36
NG_011554.1:g.5049del
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.-80del
MANE Select
ENSP00000357980.3:n.-80del
ENST00000648167.1:c.154+2864del
ENSP00000498033.1:n.154+2864del
ENST00000368984.7:c.-80del
ENSP00000357980.3:n.-80del
NM_002775.4:c.-80del
NP_002766.1:n.-80del
NM_002775.5:c.-80del
MANE Select
NP_002766.1:n.-80del
Search 100 bp 5'
Search 100 bp 3'