Canonical Allele Identifier: CA2169210639

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793467_34793484delinsTGATACCATGCTCGATGG , CM000677.2:g.34793467_34793484delinsTGATACCATGCTCGATGG	GRCh38
NC_000015.9:g.35085668_35085685delinsTGATACCATGCTCGATGG , CM000677.1:g.35085668_35085685delinsTGATACCATGCTCGATGG	GRCh37
NC_000015.8:g.32872960_32872977delinsTGATACCATGCTCGATGG	NCBI36
NG_007553.1:g.7243_7260delinsCCATCGAGCATGGTATCA , LRG_388:g.7243_7260delinsCCATCGAGCATGGTATCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.321_338delinsCCATCGAGCATGGTATCA (ACTC1)
ENST00000290378.6:c.215_232delinsCCATCGAGCATGGTATCA (ACTC1) MANE Select	ENSP00000290378.4:p.Pro72=
ENST00000647798.1:n.362_379delinsCCATCGAGCATGGTATCA (ACTC1)
ENST00000648556.1:n.372_389delinsCCATCGAGCATGGTATCA (ACTC1)
ENST00000650163.1:n.295_312delinsCCATCGAGCATGGTATCA (ACTC1)
ENST00000290378.4:c.215_232delinsCCATCGAGCATGGTATCA (ACTC1)	ENSP00000290378.4:p.Pro72=
NM_005159.4:c.215_232delinsCCATCGAGCATGGTATCA , LRG_388t1:c.215_232delinsCCATCGAGCATGGTATCA (ACTC1)	NP_005150.1:p.Pro72=
NR_120329.1:n.299+16036_299+16053delinsTGATACCATGCTCGATGG (GJD2-DT)
NM_005159.5:c.215_232delinsCCATCGAGCATGGTATCA (ACTC1) MANE Select	NP_005150.1:p.Pro72=