Canonical Allele Identifier: CA2627661528

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34789538-AAAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789541_34789544del , CM000677.2:g.34789541_34789544del	GRCh38
NC_000015.9:g.35081742_35081745del , CM000677.1:g.35081742_35081745del	GRCh37
NC_000015.8:g.32869034_32869037del	NCBI36
NG_007553.1:g.11185_11188del , LRG_388:g.11185_11188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*870_*873del (ACTC1)	ENSP00000290378.4:n.*870_*873del
NM_005159.4:c.*870_*873del , LRG_388t1:c.*870_*873del (ACTC1)	NP_005150.1:n.*870_*873del
NR_120329.1:n.299+12110_299+12113del (GJD2-DT)