Canonical Allele Identifier: CA2169208633

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891725669

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792529dup , CM000677.2:g.34792529dup	GRCh38
NC_000015.9:g.35084730dup , CM000677.1:g.35084730dup	GRCh37
NC_000015.8:g.32872022dup	NCBI36
NG_007553.1:g.8201dup , LRG_388:g.8201dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.604dup (ACTC1)
ENST00000290378.6:c.498dup (ACTC1) MANE Select	ENSP00000290378.4:p.Ile167HisfsTer3
ENST00000647798.1:n.592dup (ACTC1)
ENST00000648556.1:n.655dup (ACTC1)
ENST00000650163.1:n.578dup (ACTC1)
ENST00000290378.4:c.498dup (ACTC1)	ENSP00000290378.4:p.Ile167HisfsTer3
ENST00000557860.1:n.188dup (ACTC1)
NM_005159.4:c.498dup , LRG_388t1:c.498dup (ACTC1)	NP_005150.1:p.Ile167HisfsTer3
NR_120329.1:n.299+15098dup (GJD2-DT)
NM_005159.5:c.498dup (ACTC1) MANE Select	NP_005150.1:p.Ile167HisfsTer3