Canonical Allele Identifier: CA2169208819

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792608_34792609delinsAG , CM000677.2:g.34792608_34792609delinsAG	GRCh38
NC_000015.9:g.35084809_35084810delinsAG , CM000677.1:g.35084809_35084810delinsAG	GRCh37
NC_000015.8:g.32872101_32872102delinsAG	NCBI36
NG_007553.1:g.8118_8119delinsCT , LRG_388:g.8118_8119delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-40_561-39delinsCT (ACTC1)
ENST00000290378.6:c.455-40_455-39delinsCT (ACTC1) MANE Select	ENSP00000290378.4:n.455-40_455-39delinsCT
ENST00000647798.1:n.549-40_549-39delinsCT (ACTC1)
ENST00000648556.1:n.612-40_612-39delinsCT (ACTC1)
ENST00000650163.1:n.535-40_535-39delinsCT (ACTC1)
ENST00000290378.4:c.455-40_455-39delinsCT (ACTC1)	ENSP00000290378.4:n.455-40_455-39delinsCT
ENST00000557860.1:n.145-40_145-39delinsCT (ACTC1)
NM_005159.4:c.455-40_455-39delinsCT , LRG_388t1:c.455-40_455-39delinsCT (ACTC1)	NP_005150.1:n.455-40_455-39delinsCT
NR_120329.1:n.299+15177_299+15178delinsAG (GJD2-DT)
NM_005159.5:c.455-40_455-39delinsCT (ACTC1) MANE Select	NP_005150.1:n.455-40_455-39delinsCT