Canonical Allele Identifier: CA2803722633

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790348_34790349insCCTCA , CM000677.2:g.34790348_34790349insCCTCA	GRCh38
NC_000015.9:g.35082549_35082550insCCTCA , CM000677.1:g.35082549_35082550insCCTCA	GRCh37
NC_000015.8:g.32869841_32869842insCCTCA	NCBI36
NG_007553.1:g.10378_10379insTGAGG , LRG_388:g.10378_10379insTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2097_2098insTGAGG (ACTC1)
ENST00000290378.6:c.*63_*64insTGAGG (ACTC1) MANE Select	ENSP00000290378.4:n.*63_*64insTGAGG
ENST00000647798.1:n.1291_1292insTGAGG (ACTC1)
ENST00000650163.1:n.1277_1278insTGAGG (ACTC1)
ENST00000290378.4:c.*63_*64insTGAGG (ACTC1)	ENSP00000290378.4:n.*63_*64insTGAGG
NM_005159.4:c.*63_*64insTGAGG , LRG_388t1:c.*63_*64insTGAGG (ACTC1)	NP_005150.1:n.*63_*64insTGAGG
NR_120329.1:n.299+12917_299+12918insCCTCA (GJD2-DT)
NM_005159.5:c.*63_*64insTGAGG (ACTC1) MANE Select	NP_005150.1:n.*63_*64insTGAGG