Canonical Allele Identifier: CA2627662949

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792623-CTCTAGCCACGGCAAAGCCCGCTTCCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792627_34792653del , CM000677.2:g.34792627_34792653del	GRCh38
NC_000015.9:g.35084828_35084854del , CM000677.1:g.35084828_35084854del	GRCh37
NC_000015.8:g.32872120_32872146del	NCBI36
NG_007553.1:g.8077_8103del , LRG_388:g.8077_8103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-81_561-55del (ACTC1)
ENST00000290378.6:c.455-81_455-55del (ACTC1) MANE Select	ENSP00000290378.4:n.455-81_455-55del
ENST00000647798.1:n.549-81_549-55del (ACTC1)
ENST00000648556.1:n.612-81_612-55del (ACTC1)
ENST00000650163.1:n.535-81_535-55del (ACTC1)
ENST00000290378.4:c.455-81_455-55del (ACTC1)	ENSP00000290378.4:n.455-81_455-55del
ENST00000557860.1:n.144+58_145-55del (ACTC1)
NM_005159.4:c.455-81_455-55del , LRG_388t1:c.455-81_455-55del (ACTC1)	NP_005150.1:n.455-81_455-55del
NR_120329.1:n.299+15196_299+15222del (GJD2-DT)
NM_005159.5:c.455-81_455-55del (ACTC1) MANE Select	NP_005150.1:n.455-81_455-55del