Canonical Allele Identifier: CA2803722583
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789197del , CM000677.2:g.34789197del GRCh38
NC_000015.9:g.35081398del , CM000677.1:g.35081398del GRCh37
NC_000015.8:g.32868690del NCBI36
NG_007553.1:g.11533del , LRG_388:g.11533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1218del (ACTC1) ENSP00000290378.4:n.*1218del
NM_005159.4:c.*1218del , LRG_388t1:c.*1218del (ACTC1) NP_005150.1:n.*1218del
NR_120329.1:n.299+11766del (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'