Canonical Allele Identifier: CA2627662893

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792158-CCATCAGGCAGTTCATAGCTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792160_34792181del , CM000677.2:g.34792160_34792181del	GRCh38
NC_000015.9:g.35084361_35084382del , CM000677.1:g.35084361_35084382del	GRCh37
NC_000015.8:g.32871653_32871674del	NCBI36
NG_007553.1:g.8547_8568del , LRG_388:g.8547_8568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.824_845del (ACTC1)
ENST00000290378.6:c.718_739del (ACTC1) MANE Select	ENSP00000290378.4:p.Lys240AlafsTer?
ENST00000647798.1:n.812_833del (ACTC1)
ENST00000650163.1:n.798_819del (ACTC1)
ENST00000290378.4:c.718_739del (ACTC1)	ENSP00000290378.4:p.Lys240AlafsTer?
ENST00000557860.1:n.408_429del (ACTC1)
ENST00000560563.1:n.217_238del (ACTC1)
NM_005159.4:c.718_739del , LRG_388t1:c.718_739del (ACTC1)	NP_005150.1:p.Lys240AlafsTer?
NR_120329.1:n.299+14729_299+14750del (GJD2-DT)
NM_005159.5:c.718_739del (ACTC1) MANE Select	NP_005150.1:p.Lys240AlafsTer?