Canonical Allele Identifier: CA2169206272

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791352_34791354delinsCAT , CM000677.2:g.34791352_34791354delinsCAT	GRCh38
NC_000015.9:g.35083553_35083555delinsCAT , CM000677.1:g.35083553_35083555delinsCAT	GRCh37
NC_000015.8:g.32870845_32870847delinsCAT	NCBI36
NG_007553.1:g.9373_9375delinsATG , LRG_388:g.9373_9375delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1650_1652delinsATG (ACTC1)
ENST00000290378.6:c.809-59_809-57delinsATG (ACTC1) MANE Select	ENSP00000290378.4:n.809-59_809-57delinsATG
ENST00000647798.1:n.903-59_903-57delinsATG (ACTC1)
ENST00000650163.1:n.889-59_889-57delinsATG (ACTC1)
ENST00000290378.4:c.809-59_809-57delinsATG (ACTC1)	ENSP00000290378.4:n.809-59_809-57delinsATG
ENST00000557860.1:n.499-59_499-57delinsATG (ACTC1)
NM_005159.4:c.809-59_809-57delinsATG , LRG_388t1:c.809-59_809-57delinsATG (ACTC1)	NP_005150.1:n.809-59_809-57delinsATG
NR_120329.1:n.299+13921_299+13923delinsCAT (GJD2-DT)
NM_005159.5:c.809-59_809-57delinsATG (ACTC1) MANE Select	NP_005150.1:n.809-59_809-57delinsATG