Canonical Allele Identifier: CA042166
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 417998
ClinVar RCV Id: RCV000478966 RCV002056729 RCV003114602
dbSNP Id: rs749539033
ExAC: 15:35084594 GAC / G
gnomAD v2: 15-35084594-GAC-G
gnomAD v3: 15-34792393-GAC-G
gnomAD v4: 15-34792393-GAC-G
MyVariant Identifiers: chr15:g.35084595_35084596del (hg19) chr15:g.34792394_34792395del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792402_34792403del , CM000677.2:g.34792402_34792403del GRCh38
NC_000015.9:g.35084603_35084604del , CM000677.1:g.35084603_35084604del GRCh37
NC_000015.8:g.32871895_32871896del NCBI36
NG_007553.1:g.8332_8333del , LRG_388:g.8332_8333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.722+13_722+14del (ACTC1)
ENST00000290378.6:c.616+13_616+14del (ACTC1) MANE Select ENSP00000290378.4:n.616+13_616+14del
ENST00000647798.1:n.710+13_710+14del (ACTC1)
ENST00000648556.1:n.773+13_773+14del (ACTC1)
ENST00000650163.1:n.696+13_696+14del (ACTC1)
ENST00000290378.4:c.616+13_616+14del (ACTC1) ENSP00000290378.4:n.616+13_616+14del
ENST00000557860.1:n.306+13_306+14del (ACTC1)
ENST00000560563.1:n.115+13_115+14del (ACTC1)
NM_005159.4:c.616+13_616+14del , LRG_388t1:c.616+13_616+14del (ACTC1) NP_005150.1:n.616+13_616+14del
NR_120329.1:n.299+14971_299+14972del (GJD2-DT)
NM_005159.5:c.616+13_616+14del (ACTC1) MANE Select NP_005150.1:n.616+13_616+14del
Search 100 bp 5'
Search 100 bp 3'