×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2611238457
Gene: HTRA1
HGNC
NCBI
Linked Data
gnomAD v4:
10-122461478-C-CCGGGCGCCGTGCCCGTCCCCAAGG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461482_122461505dup , CM000672.2:g.122461482_122461505dup
GRCh38
NC_000010.10:g.124220998_124221021dup , CM000672.1:g.124220998_124221021dup
GRCh37
NC_000010.9:g.124210988_124211011dup
NCBI36
NG_011554.1:g.4958_4981dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000648167.1:c.154+2773_154+2796dup
ENSP00000498033.1:n.154+2773_154+2796dup
Search 100 bp 5'
Search 100 bp 3'