Canonical Allele Identifier: CA2803722702
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792283_34792408del , CM000677.2:g.34792283_34792408del GRCh38
NC_000015.9:g.35084484_35084609del , CM000677.1:g.35084484_35084609del GRCh37
NC_000015.8:g.32871776_32871901del NCBI36
NG_007553.1:g.8320_8445del , LRG_388:g.8320_8445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.722+1_723-1del (ACTC1)
ENST00000290378.6:c.616+1_617-1del (ACTC1)
ENST00000647798.1:n.710+1_711-1del (ACTC1)
ENST00000648556.1:n.773+1_774-1del (ACTC1)
ENST00000650163.1:n.696+1_697-1del (ACTC1)
ENST00000290378.4:c.616+1_617-1del (ACTC1)
ENST00000557860.1:n.306+1_307-1del (ACTC1)
ENST00000560563.1:n.115+1_116-1del (ACTC1)
NM_005159.4:c.616+1_617-1del , LRG_388t1:c.616+1_617-1del (ACTC1)
NR_120329.1:n.299+14852_299+14977del (GJD2-DT)
NM_005159.5:c.616+1_617-1del (ACTC1)
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