Canonical Allele Identifier: CA2627661802
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790044del , CM000677.2:g.34790044del GRCh38
NC_000015.9:g.35082245del , CM000677.1:g.35082245del GRCh37
NC_000015.8:g.32869537del NCBI36
NG_007553.1:g.10683del , LRG_388:g.10683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*368del (ACTC1) ENSP00000290378.4:n.*368del
NM_005159.4:c.*368del , LRG_388t1:c.*368del (ACTC1) NP_005150.1:n.*368del
NR_120329.1:n.299+12613del (GJD2-DT)