Canonical Allele Identifier: CA2169199791

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788525_34788526delinsCA , CM000677.2:g.34788525_34788526delinsCA	GRCh38
NC_000015.9:g.35080726_35080727delinsCA , CM000677.1:g.35080726_35080727delinsCA	GRCh37
NC_000015.8:g.32868018_32868019delinsCA	NCBI36
NG_007553.1:g.12201_12202delinsTG , LRG_388:g.12201_12202delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1886_*1887delinsTG (ACTC1)	ENSP00000290378.4:n.*1886_*1887delinsTG
NM_005159.4:c.*1886_*1887delinsTG , LRG_388t1:c.*1886_*1887delinsTG (ACTC1)	NP_005150.1:n.*1886_*1887delinsTG
NR_120329.1:n.299+11094_299+11095delinsCA (GJD2-DT)