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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:
CA973236087
Gene: ARRDC4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1899294563
gnomAD v3:
15-97960837-GGGCA-G
gnomAD v4:
15-97960837-GGGCA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.97960840_97960843del , CM000677.2:g.97960840_97960843del
GRCh38
NC_000015.9:g.98504070_98504073del , CM000677.1:g.98504070_98504073del
GRCh37
NC_000015.8:g.96305074_96305077del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000268042.7:c.-22_-19del
MANE Select
ENSP00000268042.6:n.-22_-19del
ENST00000268042.6:c.-22_-19del
ENSP00000268042.6:n.-22_-19del
NM_183376.2:c.-22_-19del
NP_899232.2:n.-22_-19del
NM_183376.3:c.-22_-19del
MANE Select
NP_899232.2:n.-22_-19del
Search 100 bp 5'
Search 100 bp 3'