Canonical Allele Identifier: CA712314129
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1478966677
MyVariant Identifiers: chr15:g.35082134_35082135del (hg19) chr15:g.34789933_34789934del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789935_34789936del , CM000677.2:g.34789935_34789936del GRCh38
NC_000015.9:g.35082136_35082137del , CM000677.1:g.35082136_35082137del GRCh37
NC_000015.8:g.32869428_32869429del NCBI36
NG_007553.1:g.10793_10794del , LRG_388:g.10793_10794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*478_*479del (ACTC1) ENSP00000290378.4:n.*478_*479del
NM_005159.4:c.*478_*479del , LRG_388t1:c.*478_*479del (ACTC1) NP_005150.1:n.*478_*479del
NR_120329.1:n.299+12504_299+12505del (GJD2-DT)
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