Canonical Allele Identifier: CA712280292

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1340195727
• gnomAD v3: 15-34792663-GAT-G
• gnomAD v4: 15-34792663-GAT-G
• MyVariant Identifiers: chr15:g.35084865_35084866del (hg19) ; chr15:g.34792664_34792665del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792664_34792665del , CM000677.2:g.34792664_34792665del	GRCh38
NC_000015.9:g.35084865_35084866del , CM000677.1:g.35084865_35084866del	GRCh37
NC_000015.8:g.32872157_32872158del	NCBI36
NG_007553.1:g.8062_8063del , LRG_388:g.8062_8063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-96_561-95del (ACTC1)
ENST00000290378.6:c.455-96_455-95del (ACTC1) MANE Select	ENSP00000290378.4:n.455-96_455-95del
ENST00000647798.1:n.549-96_549-95del (ACTC1)
ENST00000648556.1:n.612-96_612-95del (ACTC1)
ENST00000650163.1:n.535-96_535-95del (ACTC1)
ENST00000290378.4:c.455-96_455-95del (ACTC1)	ENSP00000290378.4:n.455-96_455-95del
ENST00000557860.1:n.144+43_144+44del (ACTC1)
NM_005159.4:c.455-96_455-95del , LRG_388t1:c.455-96_455-95del (ACTC1)	NP_005150.1:n.455-96_455-95del
NR_120329.1:n.299+15233_299+15234del (GJD2-DT)
NM_005159.5:c.455-96_455-95del (ACTC1) MANE Select	NP_005150.1:n.455-96_455-95del