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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:
CA2627661112
Gene: ACTC1
HGNC
NCBI
GJD2-DT
HGNC
NCBI
Linked Data
gnomAD v4:
15-34788747-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.34788749del , CM000677.2:g.34788749del
GRCh38
NC_000015.9:g.35080950del , CM000677.1:g.35080950del
GRCh37
NC_000015.8:g.32868242del
NCBI36
NG_007553.1:g.11979del , LRG_388:g.11979del
Transcript Alleles
HGVS
Amino-acid change
ENST00000290378.4:c.*1664del
(ACTC1)
ENSP00000290378.4:n.*1664del
NM_005159.4:c.*1664del , LRG_388t1:c.*1664del
(ACTC1)
NP_005150.1:n.*1664del
NR_120329.1:n.299+11318del
(GJD2-DT)
Search 100 bp 5'
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