Canonical Allele Identifier: CA2169207146

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791886_34791888delinsAGT , CM000677.2:g.34791886_34791888delinsAGT	GRCh38
NC_000015.9:g.35084087_35084089delinsAGT , CM000677.1:g.35084087_35084089delinsAGT	GRCh37
NC_000015.8:g.32871379_32871381delinsAGT	NCBI36
NG_007553.1:g.8839_8841delinsACT , LRG_388:g.8839_8841delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1116_1118delinsACT (ACTC1)
ENST00000290378.6:c.808+202_808+204delinsACT (ACTC1) MANE Select	ENSP00000290378.4:n.808+202_808+204delinsACT
ENST00000647798.1:n.902+202_902+204delinsACT (ACTC1)
ENST00000650163.1:n.888+202_888+204delinsACT (ACTC1)
ENST00000290378.4:c.808+202_808+204delinsACT (ACTC1)	ENSP00000290378.4:n.808+202_808+204delinsACT
ENST00000557860.1:n.498+202_498+204delinsACT (ACTC1)
ENST00000560563.1:n.509_511delinsACT (ACTC1)
NM_005159.4:c.808+202_808+204delinsACT , LRG_388t1:c.808+202_808+204delinsACT (ACTC1)	NP_005150.1:n.808+202_808+204delinsACT
NR_120329.1:n.299+14455_299+14457delinsAGT (GJD2-DT)
NM_005159.5:c.808+202_808+204delinsACT (ACTC1) MANE Select	NP_005150.1:n.808+202_808+204delinsACT