Canonical Allele Identifier: CA2169200854

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788989_34788991delinsCTA , CM000677.2:g.34788989_34788991delinsCTA	GRCh38
NC_000015.9:g.35081190_35081192delinsCTA , CM000677.1:g.35081190_35081192delinsCTA	GRCh37
NC_000015.8:g.32868482_32868484delinsCTA	NCBI36
NG_007553.1:g.11736_11738delinsTAG , LRG_388:g.11736_11738delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1421_*1423delinsTAG (ACTC1)	ENSP00000290378.4:n.*1421_*1423delinsTAG
NM_005159.4:c.*1421_*1423delinsTAG , LRG_388t1:c.*1421_*1423delinsTAG (ACTC1)	NP_005150.1:n.*1421_*1423delinsTAG
NR_120329.1:n.299+11558_299+11560delinsCTA (GJD2-DT)