Canonical Allele Identifier: CA712279188
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 929116
ClinVar RCV Id: RCV001194105 RCV002069246
dbSNP Id: rs59431308
gnomAD v3: 15-34791307-T-TCACACACA
gnomAD v4: 15-34791307-T-TCACACACA
MyVariant Identifiers: chr15:g.35083508_35083509insCACACACA (hg19) chr15:g.34791307_34791308insCACACACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791346_34791353dup , CM000677.2:g.34791346_34791353dup GRCh38
NC_000015.9:g.35083547_35083554dup , CM000677.1:g.35083547_35083554dup GRCh37
NC_000015.8:g.32870839_32870846dup NCBI36
NG_007553.1:g.9412_9419dup , LRG_388:g.9412_9419dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1689_1696dup (ACTC1)
ENST00000290378.6:c.809-20_809-13dup (ACTC1) MANE Select ENSP00000290378.4:n.809-20_809-13dup
ENST00000647798.1:n.903-20_903-13dup (ACTC1)
ENST00000650163.1:n.889-20_889-13dup (ACTC1)
ENST00000290378.4:c.809-20_809-13dup (ACTC1) ENSP00000290378.4:n.809-20_809-13dup
ENST00000557860.1:n.499-20_499-13dup (ACTC1)
NM_005159.4:c.809-20_809-13dup , LRG_388t1:c.809-20_809-13dup (ACTC1) NP_005150.1:n.809-20_809-13dup
NR_120329.1:n.299+13915_299+13922dup (GJD2-DT)
NM_005159.5:c.809-20_809-13dup (ACTC1) MANE Select NP_005150.1:n.809-20_809-13dup
Search 100 bp 5'
Search 100 bp 3'