Canonical Allele Identifier: CA2169206320

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791354_34791357delinsTCAC , CM000677.2:g.34791354_34791357delinsTCAC	GRCh38
NC_000015.9:g.35083555_35083558delinsTCAC , CM000677.1:g.35083555_35083558delinsTCAC	GRCh37
NC_000015.8:g.32870847_32870850delinsTCAC	NCBI36
NG_007553.1:g.9370_9373delinsGTGA , LRG_388:g.9370_9373delinsGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1647_1650delinsGTGA (ACTC1)
ENST00000290378.6:c.809-62_809-59delinsGTGA (ACTC1) MANE Select	ENSP00000290378.4:n.809-62_809-59delinsGTGA
ENST00000647798.1:n.903-62_903-59delinsGTGA (ACTC1)
ENST00000650163.1:n.889-62_889-59delinsGTGA (ACTC1)
ENST00000290378.4:c.809-62_809-59delinsGTGA (ACTC1)	ENSP00000290378.4:n.809-62_809-59delinsGTGA
ENST00000557860.1:n.499-62_499-59delinsGTGA (ACTC1)
NM_005159.4:c.809-62_809-59delinsGTGA , LRG_388t1:c.809-62_809-59delinsGTGA (ACTC1)	NP_005150.1:n.809-62_809-59delinsGTGA
NR_120329.1:n.299+13923_299+13926delinsTCAC (GJD2-DT)
NM_005159.5:c.809-62_809-59delinsGTGA (ACTC1) MANE Select	NP_005150.1:n.809-62_809-59delinsGTGA