Canonical Allele Identifier: CA915946508

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 644014
• ClinVar RCV Id: RCV000797847
• dbSNP Id: rs1595760229

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791169_34791170delinsA , CM000677.2:g.34791169_34791170delinsA	GRCh38
NC_000015.9:g.35083370_35083371delinsA , CM000677.1:g.35083370_35083371delinsA	GRCh37
NC_000015.8:g.32870662_32870663delinsA	NCBI36
NG_007553.1:g.9557_9558delinsT , LRG_388:g.9557_9558delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1834_1835delinsT (ACTC1)
ENST00000290378.6:c.934_935delinsT (ACTC1) MANE Select	ENSP00000290378.4:p.Ala312LeufsTer16
ENST00000647798.1:n.1028_1029delinsT (ACTC1)
ENST00000650163.1:n.1014_1015delinsT (ACTC1)
ENST00000290378.4:c.934_935delinsT (ACTC1)	ENSP00000290378.4:p.Ala312LeufsTer16
ENST00000557860.1:n.624_625delinsT (ACTC1)
NM_005159.4:c.934_935delinsT , LRG_388t1:c.934_935delinsT (ACTC1)	NP_005150.1:p.Ala312LeufsTer16
NR_120329.1:n.299+13738_299+13739delinsA (GJD2-DT)
NM_005159.5:c.934_935delinsT (ACTC1) MANE Select	NP_005150.1:p.Ala312LeufsTer16