Canonical Allele Identifier: CA268661814

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs35907417
• MyVariant Identifiers: chr15:g.35084245_35084246insC (hg19) ; chr15:g.34792044_34792045insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792044_34792045insC , CM000677.2:g.34792044_34792045insC	GRCh38
NC_000015.9:g.35084245_35084246insC , CM000677.1:g.35084245_35084246insC	GRCh37
NC_000015.8:g.32871537_32871538insC	NCBI36
NG_007553.1:g.8682_8683insG , LRG_388:g.8682_8683insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.959_960insG (ACTC1)
ENST00000290378.6:c.808+45_808+46insG (ACTC1) MANE Select	ENSP00000290378.4:n.808+45_808+46insG
ENST00000647798.1:n.902+45_902+46insG (ACTC1)
ENST00000650163.1:n.888+45_888+46insG (ACTC1)
ENST00000290378.4:c.808+45_808+46insG (ACTC1)	ENSP00000290378.4:n.808+45_808+46insG
ENST00000557860.1:n.498+45_498+46insG (ACTC1)
ENST00000560563.1:n.352_353insG (ACTC1)
NM_005159.4:c.808+45_808+46insG , LRG_388t1:c.808+45_808+46insG (ACTC1)	NP_005150.1:n.808+45_808+46insG
NR_120329.1:n.299+14613_299+14614insC (GJD2-DT)
NM_005159.5:c.808+45_808+46insG (ACTC1) MANE Select	NP_005150.1:n.808+45_808+46insG