Canonical Allele Identifier: CA968569759

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891709787
• gnomAD v3: 15-34791595-T-TA
• gnomAD v4: 15-34791595-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791596dup , CM000677.2:g.34791596dup	GRCh38
NC_000015.9:g.35083797dup , CM000677.1:g.35083797dup	GRCh37
NC_000015.8:g.32871089dup	NCBI36
NG_007553.1:g.9131dup , LRG_388:g.9131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1408dup (ACTC1)
ENST00000290378.6:c.809-301dup (ACTC1) MANE Select	ENSP00000290378.4:n.809-301dup
ENST00000647798.1:n.903-301dup (ACTC1)
ENST00000650163.1:n.889-301dup (ACTC1)
ENST00000290378.4:c.809-301dup (ACTC1)	ENSP00000290378.4:n.809-301dup
ENST00000557860.1:n.499-301dup (ACTC1)
NM_005159.4:c.809-301dup , LRG_388t1:c.809-301dup (ACTC1)	NP_005150.1:n.809-301dup
NR_120329.1:n.299+14165dup (GJD2-DT)
NM_005159.5:c.809-301dup (ACTC1) MANE Select	NP_005150.1:n.809-301dup