Canonical Allele Identifier: CA2803722708

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792595_34792596insACCAAACACACCCAACACA , CM000677.2:g.34792595_34792596insACCAAACACACCCAACACA	GRCh38
NC_000015.9:g.35084796_35084797insACCAAACACACCCAACACA , CM000677.1:g.35084796_35084797insACCAAACACACCCAACACA	GRCh37
NC_000015.8:g.32872088_32872089insACCAAACACACCCAACACA	NCBI36
NG_007553.1:g.8132_8133insGTGTTGGGTGTGTTTGGTT , LRG_388:g.8132_8133insGTGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-26_561-25insGTGTTGGGTGTGTTTGGTT (ACTC1)
ENST00000290378.6:c.455-26_455-25insGTGTTGGGTGTGTTTGGTT (ACTC1) MANE Select	ENSP00000290378.4:n.455-26_455-25insGTGTTGGGTGTGTTTGGTT
ENST00000647798.1:n.549-26_549-25insGTGTTGGGTGTGTTTGGTT (ACTC1)
ENST00000648556.1:n.612-26_612-25insGTGTTGGGTGTGTTTGGTT (ACTC1)
ENST00000650163.1:n.535-26_535-25insGTGTTGGGTGTGTTTGGTT (ACTC1)
ENST00000290378.4:c.455-26_455-25insGTGTTGGGTGTGTTTGGTT (ACTC1)	ENSP00000290378.4:n.455-26_455-25insGTGTTGGGTGTGTTTGGTT
ENST00000557860.1:n.145-26_145-25insGTGTTGGGTGTGTTTGGTT (ACTC1)
NM_005159.4:c.455-26_455-25insGTGTTGGGTGTGTTTGGTT , LRG_388t1:c.455-26_455-25insGTGTTGGGTGTGTTTGGTT (ACTC1)	NP_005150.1:n.455-26_455-25insGTGTTGGGTGTGTTTGGTT
NR_120329.1:n.299+15164_299+15165insACCAAACACACCCAACACA (GJD2-DT)
NM_005159.5:c.455-26_455-25insGTGTTGGGTGTGTTTGGTT (ACTC1) MANE Select	NP_005150.1:n.455-26_455-25insGTGTTGGGTGTGTTTGGTT