Canonical Allele Identifier: CA2169201246

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789189_34789190delinsAT , CM000677.2:g.34789189_34789190delinsAT	GRCh38
NC_000015.9:g.35081390_35081391delinsAT , CM000677.1:g.35081390_35081391delinsAT	GRCh37
NC_000015.8:g.32868682_32868683delinsAT	NCBI36
NG_007553.1:g.11537_11538delinsAT , LRG_388:g.11537_11538delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1222_*1223delinsAT (ACTC1)	ENSP00000290378.4:n.*1222_*1223delinsAT
NM_005159.4:c.*1222_*1223delinsAT , LRG_388t1:c.*1222_*1223delinsAT (ACTC1)	NP_005150.1:n.*1222_*1223delinsAT
NR_120329.1:n.299+11758_299+11759delinsAT (GJD2-DT)