Canonical Allele Identifier: CA268661160
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 929117
ClinVar RCV Id: RCV001194107 RCV002069247 RCV003918767
dbSNP Id: rs59431308
gnomAD v3: 15-34791307-TCACACA-T
gnomAD v4: 15-34791307-TCACACA-T
MyVariant Identifiers: chr15:g.35083523_35083528del (hg19) chr15:g.35083509_35083514del (hg19) chr15:g.34791308_34791313del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791348_34791353del , CM000677.2:g.34791348_34791353del GRCh38
NC_000015.9:g.35083549_35083554del , CM000677.1:g.35083549_35083554del GRCh37
NC_000015.8:g.32870841_32870846del NCBI36
NG_007553.1:g.9414_9419del , LRG_388:g.9414_9419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1691_1696del (ACTC1)
ENST00000290378.6:c.809-18_809-13del (ACTC1) MANE Select ENSP00000290378.4:n.809-18_809-13del
ENST00000647798.1:n.903-18_903-13del (ACTC1)
ENST00000650163.1:n.889-18_889-13del (ACTC1)
ENST00000290378.4:c.809-18_809-13del (ACTC1) ENSP00000290378.4:n.809-18_809-13del
ENST00000557860.1:n.499-18_499-13del (ACTC1)
NM_005159.4:c.809-18_809-13del , LRG_388t1:c.809-18_809-13del (ACTC1) NP_005150.1:n.809-18_809-13del
NR_120329.1:n.299+13917_299+13922del (GJD2-DT)
NM_005159.5:c.809-18_809-13del (ACTC1) MANE Select NP_005150.1:n.809-18_809-13del
Search 100 bp 5'
Search 100 bp 3'