Canonical Allele Identifier: CA2999307636

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792006_34792007del , CM000677.2:g.34792006_34792007del	GRCh38
NC_000015.9:g.35084207_35084208del , CM000677.1:g.35084207_35084208del	GRCh37
NC_000015.8:g.32871499_32871500del	NCBI36
NG_007553.1:g.8720_8721del , LRG_388:g.8720_8721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.997_998del (ACTC1)
ENST00000290378.6:c.808+83_808+84del (ACTC1) MANE Select	ENSP00000290378.4:n.808+83_808+84del
ENST00000647798.1:n.902+83_902+84del (ACTC1)
ENST00000650163.1:n.888+83_888+84del (ACTC1)
ENST00000290378.4:c.808+83_808+84del (ACTC1)	ENSP00000290378.4:n.808+83_808+84del
ENST00000557860.1:n.498+83_498+84del (ACTC1)
ENST00000560563.1:n.390_391del (ACTC1)
NM_005159.4:c.808+83_808+84del , LRG_388t1:c.808+83_808+84del (ACTC1)	NP_005150.1:n.808+83_808+84del
NR_120329.1:n.299+14575_299+14576del (GJD2-DT)
NM_005159.5:c.808+83_808+84del (ACTC1) MANE Select	NP_005150.1:n.808+83_808+84del