Canonical Allele Identifier: CA019727
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 180753
dbSNP Id: rs730880388
COSMIC: COSM960890

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793424_34793426del , CM000677.2:g.34793424_34793426del GRCh38
NC_000015.9:g.35085625_35085627del , CM000677.1:g.35085625_35085627del GRCh37
NC_000015.8:g.32872917_32872919del NCBI36
NG_007553.1:g.7303_7305del , LRG_388:g.7303_7305del

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.381_383del (ACTC1)
ENST00000290378.6:c.275_277del (ACTC1) MANE Select ENSP00000290378.4:p.Phe92del
ENST00000647798.1:n.422_424del (ACTC1)
ENST00000648556.1:n.432_434del (ACTC1)
ENST00000650163.1:n.355_357del (ACTC1)
ENST00000290378.4:c.275_277del (ACTC1) ENSP00000290378.4:p.Phe92del
NM_005159.4:c.275_277del , LRG_388t1:c.275_277del (ACTC1) NP_005150.1:p.Phe92del
NR_120329.1:n.299+15993_299+15995del (GJD2-DT)
NM_005159.5:c.275_277del (ACTC1) MANE Select NP_005150.1:p.Phe92del