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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:
CA2611238765
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461591-C-CCCGGCGCCGCTCT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461597_122461609dup , CM000672.2:g.122461597_122461609dup
GRCh38
NC_000010.10:g.124221113_124221125dup , CM000672.1:g.124221113_124221125dup
GRCh37
NC_000010.9:g.124211103_124211115dup
NCBI36
NG_011554.1:g.5073_5085dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.-56_-44dup
MANE Select
ENSP00000357980.3:n.-56_-44dup
ENST00000648167.1:c.154+2888_154+2900dup
ENSP00000498033.1:n.154+2888_154+2900dup
ENST00000368984.7:c.-56_-44dup
ENSP00000357980.3:n.-56_-44dup
NM_002775.4:c.-56_-44dup
NP_002766.1:n.-56_-44dup
NM_002775.5:c.-56_-44dup
MANE Select
NP_002766.1:n.-56_-44dup
Search 100 bp 5'
Search 100 bp 3'