Canonical Allele Identifier: CA916081749

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 846360
• ClinVar RCV Id: RCV001049649 ; RCV003147580 ; RCV003147582 ; RCV003147581
• dbSNP Id: rs1891747424

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793390del , CM000677.2:g.34793390del	GRCh38
NC_000015.9:g.35085591del , CM000677.1:g.35085591del	GRCh37
NC_000015.8:g.32872883del	NCBI36
NG_007553.1:g.7340del , LRG_388:g.7340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.418del (ACTC1)
ENST00000290378.6:c.312del (ACTC1) MANE Select	ENSP00000290378.4:p.Thr105ProfsTer8
ENST00000647798.1:n.459del (ACTC1)
ENST00000648556.1:n.469del (ACTC1)
ENST00000650163.1:n.392del (ACTC1)
ENST00000290378.4:c.312del (ACTC1)	ENSP00000290378.4:p.Thr105ProfsTer8
NM_005159.4:c.312del , LRG_388t1:c.312del (ACTC1)	NP_005150.1:p.Thr105ProfsTer8
NR_120329.1:n.299+15959del (GJD2-DT)
NM_005159.5:c.312del (ACTC1) MANE Select	NP_005150.1:p.Thr105ProfsTer8