Canonical Allele Identifier: CA2169203037

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790020_34790021delinsTA , CM000677.2:g.34790020_34790021delinsTA	GRCh38
NC_000015.9:g.35082221_35082222delinsTA , CM000677.1:g.35082221_35082222delinsTA	GRCh37
NC_000015.8:g.32869513_32869514delinsTA	NCBI36
NG_007553.1:g.10706_10707delinsTA , LRG_388:g.10706_10707delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*391_*392delinsTA (ACTC1)	ENSP00000290378.4:n.*391_*392delinsTA
NM_005159.4:c.*391_*392delinsTA , LRG_388t1:c.*391_*392delinsTA (ACTC1)	NP_005150.1:n.*391_*392delinsTA
NR_120329.1:n.299+12589_299+12590delinsTA (GJD2-DT)