Canonical Allele Identifier: CA2169206263

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791351_34791352delinsAC , CM000677.2:g.34791351_34791352delinsAC	GRCh38
NC_000015.9:g.35083552_35083553delinsAC , CM000677.1:g.35083552_35083553delinsAC	GRCh37
NC_000015.8:g.32870844_32870845delinsAC	NCBI36
NG_007553.1:g.9375_9376delinsGT , LRG_388:g.9375_9376delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1652_1653delinsGT (ACTC1)
ENST00000290378.6:c.809-57_809-56delinsGT (ACTC1) MANE Select	ENSP00000290378.4:n.809-57_809-56delinsGT
ENST00000647798.1:n.903-57_903-56delinsGT (ACTC1)
ENST00000650163.1:n.889-57_889-56delinsGT (ACTC1)
ENST00000290378.4:c.809-57_809-56delinsGT (ACTC1)	ENSP00000290378.4:n.809-57_809-56delinsGT
ENST00000557860.1:n.499-57_499-56delinsGT (ACTC1)
NM_005159.4:c.809-57_809-56delinsGT , LRG_388t1:c.809-57_809-56delinsGT (ACTC1)	NP_005150.1:n.809-57_809-56delinsGT
NR_120329.1:n.299+13920_299+13921delinsAC (GJD2-DT)
NM_005159.5:c.809-57_809-56delinsGT (ACTC1) MANE Select	NP_005150.1:n.809-57_809-56delinsGT