Canonical Allele Identifier: CA2169210501

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793421_34793424delinsTAGA , CM000677.2:g.34793421_34793424delinsTAGA	GRCh38
NC_000015.9:g.35085622_35085625delinsTAGA , CM000677.1:g.35085622_35085625delinsTAGA	GRCh37
NC_000015.8:g.32872914_32872917delinsTAGA	NCBI36
NG_007553.1:g.7303_7306delinsTCTA , LRG_388:g.7303_7306delinsTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.381_384delinsTCTA (ACTC1)
ENST00000290378.6:c.275_278delinsTCTA (ACTC1) MANE Select	ENSP00000290378.4:p.Phe92=
ENST00000647798.1:n.422_425delinsTCTA (ACTC1)
ENST00000648556.1:n.432_435delinsTCTA (ACTC1)
ENST00000650163.1:n.355_358delinsTCTA (ACTC1)
ENST00000290378.4:c.275_278delinsTCTA (ACTC1)	ENSP00000290378.4:p.Phe92=
NM_005159.4:c.275_278delinsTCTA , LRG_388t1:c.275_278delinsTCTA (ACTC1)	NP_005150.1:p.Phe92=
NR_120329.1:n.299+15990_299+15993delinsTAGA (GJD2-DT)
NM_005159.5:c.275_278delinsTCTA (ACTC1) MANE Select	NP_005150.1:p.Phe92=