Canonical Allele Identifier: CA658798294

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 487625
• ClinVar RCV Id: RCV000656203
• dbSNP Id: rs1555418832
• MyVariant Identifiers: chr15:g.35084700_35084701insG (hg19) ; chr15:g.34792499_34792500insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792499_34792500insG , CM000677.2:g.34792499_34792500insG	GRCh38
NC_000015.9:g.35084700_35084701insG , CM000677.1:g.35084700_35084701insG	GRCh37
NC_000015.8:g.32871992_32871993insG	NCBI36
NG_007553.1:g.8227_8228insC , LRG_388:g.8227_8228insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.630_631insC (ACTC1)
ENST00000290378.6:c.524_525insC (ACTC1) MANE Select	ENSP00000290378.4:p.Ala176CysfsTer14
ENST00000647798.1:n.618_619insC (ACTC1)
ENST00000648556.1:n.681_682insC (ACTC1)
ENST00000650163.1:n.604_605insC (ACTC1)
ENST00000290378.4:c.524_525insC (ACTC1)	ENSP00000290378.4:p.Ala176CysfsTer14
ENST00000557860.1:n.214_215insC (ACTC1)
ENST00000560563.1:n.23_24insC (ACTC1)
NM_005159.4:c.524_525insC , LRG_388t1:c.524_525insC (ACTC1)	NP_005150.1:p.Ala176CysfsTer14
NR_120329.1:n.299+15068_299+15069insG (GJD2-DT)
NM_005159.5:c.524_525insC (ACTC1) MANE Select	NP_005150.1:p.Ala176CysfsTer14