Canonical Allele Identifier: CA2575670198

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2932456
• ClinVar RCV Id: RCV003795670

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792470del , CM000677.2:g.34792470del	GRCh38
NC_000015.9:g.35084671del , CM000677.1:g.35084671del	GRCh37
NC_000015.8:g.32871963del	NCBI36
NG_007553.1:g.8259del , LRG_388:g.8259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.662del (ACTC1)
ENST00000290378.6:c.556del (ACTC1) MANE Select	ENSP00000290378.4:p.Asp186ThrfsTer7
ENST00000647798.1:n.650del (ACTC1)
ENST00000648556.1:n.713del (ACTC1)
ENST00000650163.1:n.636del (ACTC1)
ENST00000290378.4:c.556del (ACTC1)	ENSP00000290378.4:p.Asp186ThrfsTer7
ENST00000557860.1:n.246del (ACTC1)
ENST00000560563.1:n.55del (ACTC1)
NM_005159.4:c.556del , LRG_388t1:c.556del (ACTC1)	NP_005150.1:p.Asp186ThrfsTer7
NR_120329.1:n.299+15039del (GJD2-DT)
NM_005159.5:c.556del (ACTC1) MANE Select	NP_005150.1:p.Asp186ThrfsTer7