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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:
CA2630554044
Gene: ARRDC4
HGNC
NCBI
Linked Data
gnomAD v4:
15-97960847-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.97960848del , CM000677.2:g.97960848del
GRCh38
NC_000015.9:g.98504078del , CM000677.1:g.98504078del
GRCh37
NC_000015.8:g.96305082del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000268042.7:c.-14del
MANE Select
ENSP00000268042.6:n.-14del
ENST00000268042.6:c.-14del
ENSP00000268042.6:n.-14del
NM_183376.2:c.-14del
NP_899232.2:n.-14del
NM_183376.3:c.-14del
MANE Select
NP_899232.2:n.-14del
Search 100 bp 5'
Search 100 bp 3'