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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:
CA2611238694
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461555-TCG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461557_122461558del , CM000672.2:g.122461557_122461558del
GRCh38
NC_000010.10:g.124221073_124221074del , CM000672.1:g.124221073_124221074del
GRCh37
NC_000010.9:g.124211063_124211064del
NCBI36
NG_011554.1:g.5033_5034del
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.-96_-95del
MANE Select
ENSP00000357980.3:n.-96_-95del
ENST00000648167.1:c.154+2848_154+2849del
ENSP00000498033.1:n.154+2848_154+2849del
ENST00000368984.7:c.-96_-95del
ENSP00000357980.3:n.-96_-95del
NM_002775.4:c.-96_-95del
NP_002766.1:n.-96_-95del
NM_002775.5:c.-96_-95del
MANE Select
NP_002766.1:n.-96_-95del
Search 100 bp 5'
Search 100 bp 3'