Canonical Allele Identifier: CA2627661633
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34789744-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789747del , CM000677.2:g.34789747del GRCh38
NC_000015.9:g.35081948del , CM000677.1:g.35081948del GRCh37
NC_000015.8:g.32869240del NCBI36
NG_007553.1:g.10982del , LRG_388:g.10982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*667del (ACTC1) ENSP00000290378.4:n.*667del
NM_005159.4:c.*667del , LRG_388t1:c.*667del (ACTC1) NP_005150.1:n.*667del
NR_120329.1:n.299+12316del (GJD2-DT)
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