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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:
CA2611238706
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461563-GCT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461564_122461565del , CM000672.2:g.122461564_122461565del
GRCh38
NC_000010.10:g.124221080_124221081del , CM000672.1:g.124221080_124221081del
GRCh37
NC_000010.9:g.124211070_124211071del
NCBI36
NG_011554.1:g.5040_5041del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368984.8:c.-89_-88del
MANE Select
ENSP00000357980.3:n.-89_-88del
ENST00000648167.1:c.154+2855_154+2856del
ENSP00000498033.1:n.154+2855_154+2856del
ENST00000368984.7:c.-89_-88del
ENSP00000357980.3:n.-89_-88del
NM_002775.4:c.-89_-88del
NP_002766.1:n.-89_-88del
NM_002775.5:c.-89_-88del
MANE Select
NP_002766.1:n.-89_-88del
Search 100 bp 5'
Search 100 bp 3'