Canonical Allele Identifier: CA2627661619

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34789714-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789723_34789724del , CM000677.2:g.34789723_34789724del	GRCh38
NC_000015.9:g.35081924_35081925del , CM000677.1:g.35081924_35081925del	GRCh37
NC_000015.8:g.32869216_32869217del	NCBI36
NG_007553.1:g.11011_11012del , LRG_388:g.11011_11012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*696_*697del (ACTC1)	ENSP00000290378.4:n.*696_*697del
NM_005159.4:c.*696_*697del , LRG_388t1:c.*696_*697del (ACTC1)	NP_005150.1:n.*696_*697del
NR_120329.1:n.299+12292_299+12293del (GJD2-DT)