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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
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Canonical Allele Identifier:
CA2567404862
Gene: ACTC1
HGNC
NCBI
GJD2-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.34788967_34788977del , CM000677.2:g.34788967_34788977del
GRCh38
NC_000015.9:g.35081168_35081178del , CM000677.1:g.35081168_35081178del
GRCh37
NC_000015.8:g.32868460_32868470del
NCBI36
NG_007553.1:g.11752_11762del , LRG_388:g.11752_11762del
Transcript Alleles
HGVS
Amino-acid change
ENST00000290378.4:c.*1437_*1447del
(ACTC1)
ENSP00000290378.4:n.*1437_*1447del
NM_005159.4:c.*1437_*1447del , LRG_388t1:c.*1437_*1447del
(ACTC1)
NP_005150.1:n.*1437_*1447del
NR_120329.1:n.299+11536_299+11546del
(GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'