Canonical Allele Identifier: CA968567989
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891627319
gnomAD v3: 15-34788525-CA-C
gnomAD v4: 15-34788525-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788530del , CM000677.2:g.34788530del GRCh38
NC_000015.9:g.35080731del , CM000677.1:g.35080731del GRCh37
NC_000015.8:g.32868023del NCBI36
NG_007553.1:g.12201del , LRG_388:g.12201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1886del (ACTC1) ENSP00000290378.4:n.*1886del
NM_005159.4:c.*1886del , LRG_388t1:c.*1886del (ACTC1) NP_005150.1:n.*1886del
NR_120329.1:n.299+11099del (GJD2-DT)
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