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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:
CA2344305907
Gene: DUXA
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.57166799_57166803delinsCCTGA , CM000681.2:g.57166799_57166803delinsCCTGA
GRCh38
NC_000019.9:g.57678167_57678171delinsCCTGA , CM000681.1:g.57678167_57678171delinsCCTGA
GRCh37
NC_000019.8:g.62369979_62369983delinsCCTGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000554048.3:c.25+616_25+620delinsTCAGG
MANE Select
ENSP00000452398.1:n.25+616_25+620delinsTC...
ENST00000554048.2:c.25+616_25+620delinsTCAGG
ENSP00000452398.1:n.25+616_25+620delinsTC...
NM_001012729.1:c.25+616_25+620delinsTCAGG
NP_001012747.1:n.25+616_25+620delinsTCAGG...
NM_001012729.2:c.25+616_25+620delinsTCAGG
MANE Select
NP_001012747.1:n.25+616_25+620delinsTCAGG...
Search 100 bp 5'
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