Canonical Allele Identifier: CA2169206185

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791344_34791354delinsCACACACACAT , CM000677.2:g.34791344_34791354delinsCACACACACAT	GRCh38
NC_000015.9:g.35083545_35083555delinsCACACACACAT , CM000677.1:g.35083545_35083555delinsCACACACACAT	GRCh37
NC_000015.8:g.32870837_32870847delinsCACACACACAT	NCBI36
NG_007553.1:g.9373_9383delinsATGTGTGTGTG , LRG_388:g.9373_9383delinsATGTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1650_1660delinsATGTGTGTGTG (ACTC1)
ENST00000290378.6:c.809-59_809-49delinsATGTGTGTGTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-59_809-49delinsATGTGTGTGTG
ENST00000647798.1:n.903-59_903-49delinsATGTGTGTGTG (ACTC1)
ENST00000650163.1:n.889-59_889-49delinsATGTGTGTGTG (ACTC1)
ENST00000290378.4:c.809-59_809-49delinsATGTGTGTGTG (ACTC1)	ENSP00000290378.4:n.809-59_809-49delinsATGTGTGTGTG
ENST00000557860.1:n.499-59_499-49delinsATGTGTGTGTG (ACTC1)
NM_005159.4:c.809-59_809-49delinsATGTGTGTGTG , LRG_388t1:c.809-59_809-49delinsATGTGTGTGTG (ACTC1)	NP_005150.1:n.809-59_809-49delinsATGTGTGTGTG
NR_120329.1:n.299+13913_299+13923delinsCACACACACAT (GJD2-DT)
NM_005159.5:c.809-59_809-49delinsATGTGTGTGTG (ACTC1) MANE Select	NP_005150.1:n.809-59_809-49delinsATGTGTGTGTG