Canonical Allele Identifier: CA2999307630
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791996dup , CM000677.2:g.34791996dup GRCh38
NC_000015.9:g.35084197dup , CM000677.1:g.35084197dup GRCh37
NC_000015.8:g.32871489dup NCBI36
NG_007553.1:g.8732dup , LRG_388:g.8732dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1009dup (ACTC1)
ENST00000290378.6:c.808+95dup (ACTC1) MANE Select ENSP00000290378.4:n.808+95dup
ENST00000647798.1:n.902+95dup (ACTC1)
ENST00000650163.1:n.888+95dup (ACTC1)
ENST00000290378.4:c.808+95dup (ACTC1) ENSP00000290378.4:n.808+95dup
ENST00000557860.1:n.498+95dup (ACTC1)
ENST00000560563.1:n.402dup (ACTC1)
NM_005159.4:c.808+95dup , LRG_388t1:c.808+95dup (ACTC1) NP_005150.1:n.808+95dup
NR_120329.1:n.299+14565dup (GJD2-DT)
NM_005159.5:c.808+95dup (ACTC1) MANE Select NP_005150.1:n.808+95dup