Canonical Allele Identifier: CA2741420055

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791320_34791336del , CM000677.2:g.34791320_34791336del	GRCh38
NC_000015.9:g.35083521_35083537del , CM000677.1:g.35083521_35083537del	GRCh37
NC_000015.8:g.32870813_32870829del	NCBI36
NG_007553.1:g.9391_9407del , LRG_388:g.9391_9407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1668_1684del (ACTC1)
ENST00000290378.6:c.809-41_809-25del (ACTC1) MANE Select	ENSP00000290378.4:n.809-41_809-25del
ENST00000647798.1:n.903-41_903-25del (ACTC1)
ENST00000650163.1:n.889-41_889-25del (ACTC1)
ENST00000290378.4:c.809-41_809-25del (ACTC1)	ENSP00000290378.4:n.809-41_809-25del
ENST00000557860.1:n.499-41_499-25del (ACTC1)
NM_005159.4:c.809-41_809-25del , LRG_388t1:c.809-41_809-25del (ACTC1)	NP_005150.1:n.809-41_809-25del
NR_120329.1:n.299+13889_299+13905del (GJD2-DT)
NM_005159.5:c.809-41_809-25del (ACTC1) MANE Select	NP_005150.1:n.809-41_809-25del