Canonical Allele Identifier: CA2169203296

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790138_34790139delinsCT , CM000677.2:g.34790138_34790139delinsCT	GRCh38
NC_000015.9:g.35082339_35082340delinsCT , CM000677.1:g.35082339_35082340delinsCT	GRCh37
NC_000015.8:g.32869631_32869632delinsCT	NCBI36
NG_007553.1:g.10588_10589delinsAG , LRG_388:g.10588_10589delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2307_2308delinsAG (ACTC1)
ENST00000290378.4:c.*273_*274delinsAG (ACTC1)	ENSP00000290378.4:n.*273_*274delinsAG
NM_005159.4:c.*273_*274delinsAG , LRG_388t1:c.*273_*274delinsAG (ACTC1)	NP_005150.1:n.*273_*274delinsAG
NR_120329.1:n.299+12707_299+12708delinsCT (GJD2-DT)