Canonical Allele Identifier: CA2497029886

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791307_34791323delinsTCACACACACACACACA , CM000677.2:g.34791307_34791323delinsTCACACACACACACACA	GRCh38
NC_000015.9:g.35083508_35083524delinsTCACACACACACACACA , CM000677.1:g.35083508_35083524delinsTCACACACACACACACA	GRCh37
NC_000015.8:g.32870800_32870816delinsTCACACACACACACACA	NCBI36
NG_007553.1:g.9404_9420delinsTGTGTGTGTGTGTGTGA , LRG_388:g.9404_9420delinsTGTGTGTGTGTGTGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1681_1697delinsTGTGTGTGTGTGTGTGA (ACTC1)
ENST00000290378.6:c.809-28_809-12delinsTGTGTGTGTGTGTGTGA (ACTC1) MANE Select	ENSP00000290378.4:n.809-28_809-12delinsTGTGTGTGTGTGTGTGA
ENST00000647798.1:n.903-28_903-12delinsTGTGTGTGTGTGTGTGA (ACTC1)
ENST00000650163.1:n.889-28_889-12delinsTGTGTGTGTGTGTGTGA (ACTC1)
ENST00000290378.4:c.809-28_809-12delinsTGTGTGTGTGTGTGTGA (ACTC1)	ENSP00000290378.4:n.809-28_809-12delinsTGTGTGTGTGTGTGTGA
ENST00000557860.1:n.499-28_499-12delinsTGTGTGTGTGTGTGTGA (ACTC1)
NM_005159.4:c.809-28_809-12delinsTGTGTGTGTGTGTGTGA , LRG_388t1:c.809-28_809-12delinsTGTGTGTGTGTGTGTGA (ACTC1)	NP_005150.1:n.809-28_809-12delinsTGTGTGTGTGTGTGTGA
NR_120329.1:n.299+13876_299+13892delinsTCACACACACACACACA (GJD2-DT)
NM_005159.5:c.809-28_809-12delinsTGTGTGTGTGTGTGTGA (ACTC1) MANE Select	NP_005150.1:n.809-28_809-12delinsTGTGTGTGTGTGTGTGA