Canonical Allele Identifier: CA2169209939

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793207_34793218delinsTGTGATTCATCA , CM000677.2:g.34793207_34793218delinsTGTGATTCATCA	GRCh38
NC_000015.9:g.35085408_35085419delinsTGTGATTCATCA , CM000677.1:g.35085408_35085419delinsTGTGATTCATCA	GRCh37
NC_000015.8:g.32872700_32872711delinsTGTGATTCATCA	NCBI36
NG_007553.1:g.7509_7520delinsTGATGAATCACA , LRG_388:g.7509_7520delinsTGATGAATCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+27_560+38delinsTGATGAATCACA (ACTC1)
ENST00000290378.6:c.454+27_454+38delinsTGATGAATCACA (ACTC1) MANE Select	ENSP00000290378.4:n.454+27_454+38delinsTGATGAATCACA
ENST00000647798.1:n.548+80_548+91delinsTGATGAATCACA (ACTC1)
ENST00000648556.1:n.611+27_611+38delinsTGATGAATCACA (ACTC1)
ENST00000650163.1:n.534+27_534+38delinsTGATGAATCACA (ACTC1)
ENST00000290378.4:c.454+27_454+38delinsTGATGAATCACA (ACTC1)	ENSP00000290378.4:n.454+27_454+38delinsTGATGAATCACA
NM_005159.4:c.454+27_454+38delinsTGATGAATCACA , LRG_388t1:c.454+27_454+38delinsTGATGAATCACA (ACTC1)	NP_005150.1:n.454+27_454+38delinsTGATGAATCACA
NR_120329.1:n.299+15776_299+15787delinsTGTGATTCATCA (GJD2-DT)
NM_005159.5:c.454+27_454+38delinsTGATGAATCACA (ACTC1) MANE Select	NP_005150.1:n.454+27_454+38delinsTGATGAATCACA