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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:
CA2198787562
Gene: ARRDC4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.97960837_97960841delinsGGGCA , CM000677.2:g.97960837_97960841delinsGGGCA
GRCh38
NC_000015.9:g.98504067_98504071delinsGGGCA , CM000677.1:g.98504067_98504071delinsGGGCA
GRCh37
NC_000015.8:g.96305071_96305075delinsGGGCA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268042.7:c.-25_-21delinsGGGCA
MANE Select
ENSP00000268042.6:n.-25_-21delinsGGGCA
ENST00000268042.6:c.-25_-21delinsGGGCA
ENSP00000268042.6:n.-25_-21delinsGGGCA
NM_183376.2:c.-25_-21delinsGGGCA
NP_899232.2:n.-25_-21delinsGGGCA
NM_183376.3:c.-25_-21delinsGGGCA
MANE Select
NP_899232.2:n.-25_-21delinsGGGCA
Search 100 bp 5'
Search 100 bp 3'