Canonical Allele Identifier: CA042879
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs756470577
ExAC: 15:35083548 AC / A
gnomAD v2: 15-35083548-AC-A
gnomAD v3: 15-34791347-AC-A
gnomAD v4: 15-34791347-AC-A
MyVariant Identifiers: chr15:g.35083549del (hg19) chr15:g.34791348del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791348del , CM000677.2:g.34791348del GRCh38
NC_000015.9:g.35083549del , CM000677.1:g.35083549del GRCh37
NC_000015.8:g.32870841del NCBI36
NG_007553.1:g.9379del , LRG_388:g.9379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1656del (ACTC1)
ENST00000290378.6:c.809-53del (ACTC1) MANE Select ENSP00000290378.4:n.809-53del
ENST00000647798.1:n.903-53del (ACTC1)
ENST00000650163.1:n.889-53del (ACTC1)
ENST00000290378.4:c.809-53del (ACTC1) ENSP00000290378.4:n.809-53del
ENST00000557860.1:n.499-53del (ACTC1)
NM_005159.4:c.809-53del , LRG_388t1:c.809-53del (ACTC1) NP_005150.1:n.809-53del
NR_120329.1:n.299+13917del (GJD2-DT)
NM_005159.5:c.809-53del (ACTC1) MANE Select NP_005150.1:n.809-53del
Search 100 bp 5'
Search 100 bp 3'