Canonical Allele Identifier: CA2627661826
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34790093-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790095del , CM000677.2:g.34790095del GRCh38
NC_000015.9:g.35082296del , CM000677.1:g.35082296del GRCh37
NC_000015.8:g.32869588del NCBI36
NG_007553.1:g.10633del , LRG_388:g.10633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*318del (ACTC1) ENSP00000290378.4:n.*318del
NM_005159.4:c.*318del , LRG_388t1:c.*318del (ACTC1) NP_005150.1:n.*318del
NR_120329.1:n.299+12664del (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'