Canonical Allele Identifier: CA2627661530
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789544_34789547del , CM000677.2:g.34789544_34789547del GRCh38
NC_000015.9:g.35081745_35081748del , CM000677.1:g.35081745_35081748del GRCh37
NC_000015.8:g.32869037_32869040del NCBI36
NG_007553.1:g.11182_11185del , LRG_388:g.11182_11185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*867_*870del (ACTC1) ENSP00000290378.4:n.*867_*870del
NM_005159.4:c.*867_*870del , LRG_388t1:c.*867_*870del (ACTC1) NP_005150.1:n.*867_*870del
NR_120329.1:n.299+12113_299+12116del (GJD2-DT)