Canonical Allele Identifier: CA2515752693

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792614_34792616del , CM000677.2:g.34792614_34792616del	GRCh38
NC_000015.9:g.35084815_35084817del , CM000677.1:g.35084815_35084817del	GRCh37
NC_000015.8:g.32872107_32872109del	NCBI36
NG_007553.1:g.8114_8116del , LRG_388:g.8114_8116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-44_561-42del (ACTC1)
ENST00000290378.6:c.455-44_455-42del (ACTC1) MANE Select	ENSP00000290378.4:n.455-44_455-42del
ENST00000647798.1:n.549-44_549-42del (ACTC1)
ENST00000648556.1:n.612-44_612-42del (ACTC1)
ENST00000650163.1:n.535-44_535-42del (ACTC1)
ENST00000290378.4:c.455-44_455-42del (ACTC1)	ENSP00000290378.4:n.455-44_455-42del
ENST00000557860.1:n.145-44_145-42del (ACTC1)
NM_005159.4:c.455-44_455-42del , LRG_388t1:c.455-44_455-42del (ACTC1)	NP_005150.1:n.455-44_455-42del
NR_120329.1:n.299+15183_299+15185del (GJD2-DT)
NM_005159.5:c.455-44_455-42del (ACTC1) MANE Select	NP_005150.1:n.455-44_455-42del