Canonical Allele Identifier: CA712314035
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1327119481
gnomAD v3: 15-34789773-CAACT-C
gnomAD v4: 15-34789773-CAACT-C
MyVariant Identifiers: chr15:g.35081975_35081978del (hg19) chr15:g.34789774_34789777del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789774_34789777del , CM000677.2:g.34789774_34789777del GRCh38
NC_000015.9:g.35081975_35081978del , CM000677.1:g.35081975_35081978del GRCh37
NC_000015.8:g.32869267_32869270del NCBI36
NG_007553.1:g.10950_10953del , LRG_388:g.10950_10953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*635_*638del (ACTC1) ENSP00000290378.4:n.*635_*638del
NM_005159.4:c.*635_*638del , LRG_388t1:c.*635_*638del (ACTC1) NP_005150.1:n.*635_*638del
NR_120329.1:n.299+12343_299+12346del (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'