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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:
CA660910265
Gene: HTRA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1268363725
gnomAD v4:
10-122506585-TC-T
MyVariant Identifiers:
chr10:g.124266102del (hg19)
chr10:g.122506586del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122506587del , CM000672.2:g.122506587del
GRCh38
NC_000010.10:g.124266103del , CM000672.1:g.124266103del
GRCh37
NC_000010.9:g.124256093del
NCBI36
NG_011554.1:g.50063del
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.778-104del
MANE Select
ENSP00000357980.3:n.778-104del
ENST00000648167.1:c.460-104del
ENSP00000498033.1:n.460-104del
ENST00000368984.7:c.778-104del
ENSP00000357980.3:n.778-104del
NM_002775.4:c.778-104del
NP_002766.1:n.778-104del
NM_002775.5:c.778-104del
MANE Select
NP_002766.1:n.778-104del
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