Canonical Allele Identifier: CA2573053984

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1329277
• ClinVar RCV Id: RCV001799320
• dbSNP Id: rs2140428968

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790459_34790461dup , CM000677.2:g.34790459_34790461dup	GRCh38
NC_000015.9:g.35082660_35082662dup , CM000677.1:g.35082660_35082662dup	GRCh37
NC_000015.8:g.32869952_32869954dup	NCBI36
NG_007553.1:g.10267_10269dup , LRG_388:g.10267_10269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1986_1988dup (ACTC1)
ENST00000290378.6:c.1086_1088dup (ACTC1) MANE Select	ENSP00000290378.4:p.Glu363_Tyr364insGlu
ENST00000647798.1:n.1180_1182dup (ACTC1)
ENST00000650163.1:n.1166_1168dup (ACTC1)
ENST00000290378.4:c.1086_1088dup (ACTC1)	ENSP00000290378.4:p.Glu363_Tyr364insGlu
NM_005159.4:c.1086_1088dup , LRG_388t1:c.1086_1088dup (ACTC1)	NP_005150.1:p.Glu363_Tyr364insGlu
NR_120329.1:n.299+13028_299+13030dup (GJD2-DT)
NM_005159.5:c.1086_1088dup (ACTC1) MANE Select	NP_005150.1:p.Glu363_Tyr364insGlu