Canonical Allele Identifier: CA2169208769

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891727241

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792589_34792592dup , CM000677.2:g.34792589_34792592dup	GRCh38
NC_000015.9:g.35084790_35084793dup , CM000677.1:g.35084790_35084793dup	GRCh37
NC_000015.8:g.32872082_32872085dup	NCBI36
NG_007553.1:g.8136_8139dup , LRG_388:g.8136_8139dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-22_561-19dup (ACTC1)
ENST00000290378.6:c.455-22_455-19dup (ACTC1) MANE Select	ENSP00000290378.4:n.455-22_455-19dup
ENST00000647798.1:n.549-22_549-19dup (ACTC1)
ENST00000648556.1:n.612-22_612-19dup (ACTC1)
ENST00000650163.1:n.535-22_535-19dup (ACTC1)
ENST00000290378.4:c.455-22_455-19dup (ACTC1)	ENSP00000290378.4:n.455-22_455-19dup
ENST00000557860.1:n.145-22_145-19dup (ACTC1)
NM_005159.4:c.455-22_455-19dup , LRG_388t1:c.455-22_455-19dup (ACTC1)	NP_005150.1:n.455-22_455-19dup
NR_120329.1:n.299+15158_299+15161dup (GJD2-DT)
NM_005159.5:c.455-22_455-19dup (ACTC1) MANE Select	NP_005150.1:n.455-22_455-19dup