Canonical Allele Identifier: CA912980396

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35085677_35085678insATGGGGGCCATTGAGCAGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793476_34793477insATGGGGGCCATTGAGCAGA , CM000677.2:g.34793476_34793477insATGGGGGCCATTGAGCAGA	GRCh38
NC_000015.9:g.35085677_35085678insATGGGGGCCATTGAGCAGA , CM000677.1:g.35085677_35085678insATGGGGGCCATTGAGCAGA	GRCh37
NC_000015.8:g.32872969_32872970insATGGGGGCCATTGAGCAGA	NCBI36
NG_007553.1:g.7250_7251insTCTGCTCAATGGCCCCCAT , LRG_388:g.7250_7251insTCTGCTCAATGGCCCCCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.328_329insTCTGCTCAATGGCCCCCAT (ACTC1)
ENST00000290378.6:c.222_223insTCTGCTCAATGGCCCCCAT (ACTC1) MANE Select	ENSP00000290378.4:p.His75SerfsTer27
ENST00000647798.1:n.369_370insTCTGCTCAATGGCCCCCAT (ACTC1)
ENST00000648556.1:n.379_380insTCTGCTCAATGGCCCCCAT (ACTC1)
ENST00000650163.1:n.302_303insTCTGCTCAATGGCCCCCAT (ACTC1)
ENST00000290378.4:c.222_223insTCTGCTCAATGGCCCCCAT (ACTC1)	ENSP00000290378.4:p.His75SerfsTer27
NM_005159.4:c.222_223insTCTGCTCAATGGCCCCCAT , LRG_388t1:c.222_223insTCTGCTCAATGGCCCCCAT (ACTC1)	NP_005150.1:p.His75SerfsTer27
NR_120329.1:n.299+16045_299+16046insATGGGGGCCATTGAGCAGA (GJD2-DT)
NM_005159.5:c.222_223insTCTGCTCAATGGCCCCCAT (ACTC1) MANE Select	NP_005150.1:p.His75SerfsTer27