Canonical Allele Identifier: CA10645759
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315672
ClinVar RCV Id: RCV000265634 RCV000327703
dbSNP Id: rs34323254
gnomAD v2: 15-35081694-CT-C
gnomAD v3: 15-34789493-CT-C
gnomAD v4: 15-34789493-CT-C
COSMIC: COSN20111902
MyVariant Identifiers: chr15:g.35081695del (hg19) chr15:g.34789494del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789494del , CM000677.2:g.34789494del GRCh38
NC_000015.9:g.35081695del , CM000677.1:g.35081695del GRCh37
NC_000015.8:g.32868987del NCBI36
NG_007553.1:g.11233del , LRG_388:g.11233del

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*918del (ACTC1) ENSP00000290378.4:n.*918del
NM_005159.4:c.*918del , LRG_388t1:c.*918del (ACTC1) NP_005150.1:n.*918del
NR_120329.1:n.299+12063del (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'