Canonical Allele Identifier: CA968568354
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891645230
gnomAD v3: 15-34789189-AT-A
gnomAD v4: 15-34789189-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789192del , CM000677.2:g.34789192del GRCh38
NC_000015.9:g.35081393del , CM000677.1:g.35081393del GRCh37
NC_000015.8:g.32868685del NCBI36
NG_007553.1:g.11537del , LRG_388:g.11537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1222del (ACTC1) ENSP00000290378.4:n.*1222del
NM_005159.4:c.*1222del , LRG_388t1:c.*1222del (ACTC1) NP_005150.1:n.*1222del
NR_120329.1:n.299+11761del (GJD2-DT)
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