Canonical Allele Identifier: CA2169205889

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791306_34791310delinsGTCAC , CM000677.2:g.34791306_34791310delinsGTCAC	GRCh38
NC_000015.9:g.35083507_35083511delinsGTCAC , CM000677.1:g.35083507_35083511delinsGTCAC	GRCh37
NC_000015.8:g.32870799_32870803delinsGTCAC	NCBI36
NG_007553.1:g.9417_9421delinsGTGAC , LRG_388:g.9417_9421delinsGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1694_1698delinsGTGAC (ACTC1)
ENST00000290378.6:c.809-15_809-11delinsGTGAC (ACTC1) MANE Select	ENSP00000290378.4:n.809-15_809-11delinsGTGAC
ENST00000647798.1:n.903-15_903-11delinsGTGAC (ACTC1)
ENST00000650163.1:n.889-15_889-11delinsGTGAC (ACTC1)
ENST00000290378.4:c.809-15_809-11delinsGTGAC (ACTC1)	ENSP00000290378.4:n.809-15_809-11delinsGTGAC
ENST00000557860.1:n.499-15_499-11delinsGTGAC (ACTC1)
NM_005159.4:c.809-15_809-11delinsGTGAC , LRG_388t1:c.809-15_809-11delinsGTGAC (ACTC1)	NP_005150.1:n.809-15_809-11delinsGTGAC
NR_120329.1:n.299+13875_299+13879delinsGTCAC (GJD2-DT)
NM_005159.5:c.809-15_809-11delinsGTGAC (ACTC1) MANE Select	NP_005150.1:n.809-15_809-11delinsGTGAC