Canonical Allele Identifier: CA2169207098

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791857_34791858delinsTG , CM000677.2:g.34791857_34791858delinsTG	GRCh38
NC_000015.9:g.35084058_35084059delinsTG , CM000677.1:g.35084058_35084059delinsTG	GRCh37
NC_000015.8:g.32871350_32871351delinsTG	NCBI36
NG_007553.1:g.8869_8870delinsCA , LRG_388:g.8869_8870delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1146_1147delinsCA (ACTC1)
ENST00000290378.6:c.808+232_808+233delinsCA (ACTC1) MANE Select	ENSP00000290378.4:n.808+232_808+233delinsCA
ENST00000647798.1:n.902+232_902+233delinsCA (ACTC1)
ENST00000650163.1:n.888+232_888+233delinsCA (ACTC1)
ENST00000290378.4:c.808+232_808+233delinsCA (ACTC1)	ENSP00000290378.4:n.808+232_808+233delinsCA
ENST00000557860.1:n.498+232_498+233delinsCA (ACTC1)
ENST00000560563.1:n.539_540delinsCA (ACTC1)
NM_005159.4:c.808+232_808+233delinsCA , LRG_388t1:c.808+232_808+233delinsCA (ACTC1)	NP_005150.1:n.808+232_808+233delinsCA
NR_120329.1:n.299+14426_299+14427delinsTG (GJD2-DT)
NM_005159.5:c.808+232_808+233delinsCA (ACTC1) MANE Select	NP_005150.1:n.808+232_808+233delinsCA