Canonical Allele Identifier: CA2169201638
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891651136
gnomAD v4: 15-34789424-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789429del , CM000677.2:g.34789429del GRCh38
NC_000015.9:g.35081630del , CM000677.1:g.35081630del GRCh37
NC_000015.8:g.32868922del NCBI36
NG_007553.1:g.11302del , LRG_388:g.11302del

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*987del (ACTC1) ENSP00000290378.4:n.*987del
NM_005159.4:c.*987del , LRG_388t1:c.*987del (ACTC1) NP_005150.1:n.*987del
NR_120329.1:n.299+11998del (GJD2-DT)
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