Canonical Allele Identifier: CA2169201632

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789423_34789437delinsCTGGGGGATTATGTG , CM000677.2:g.34789423_34789437delinsCTGGGGGATTATGTG	GRCh38
NC_000015.9:g.35081624_35081638delinsCTGGGGGATTATGTG , CM000677.1:g.35081624_35081638delinsCTGGGGGATTATGTG	GRCh37
NC_000015.8:g.32868916_32868930delinsCTGGGGGATTATGTG	NCBI36
NG_007553.1:g.11290_11304delinsCACATAATCCCCCAG , LRG_388:g.11290_11304delinsCACATAATCCCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*975_*989delinsCACATAATCCCCCAG (ACTC1)	ENSP00000290378.4:n.*975_*989delinsCACATAATCCCCCAG
NM_005159.4:c.*975_*989delinsCACATAATCCCCCAG , LRG_388t1:c.*975_*989delinsCACATAATCCCCCAG (ACTC1)	NP_005150.1:n.*975_*989delinsCACATAATCCCCCAG
NR_120329.1:n.299+11992_299+12006delinsCTGGGGGATTATGTG (GJD2-DT)