Canonical Allele Identifier: CA968569843

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891713227
• gnomAD v3: 15-34791857-TG-T
• gnomAD v4: 15-34791857-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791858del , CM000677.2:g.34791858del	GRCh38
NC_000015.9:g.35084059del , CM000677.1:g.35084059del	GRCh37
NC_000015.8:g.32871351del	NCBI36
NG_007553.1:g.8869del , LRG_388:g.8869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1146del (ACTC1)
ENST00000290378.6:c.808+232del (ACTC1) MANE Select	ENSP00000290378.4:n.808+232del
ENST00000647798.1:n.902+232del (ACTC1)
ENST00000650163.1:n.888+232del (ACTC1)
ENST00000290378.4:c.808+232del (ACTC1)	ENSP00000290378.4:n.808+232del
ENST00000557860.1:n.498+232del (ACTC1)
ENST00000560563.1:n.539del (ACTC1)
NM_005159.4:c.808+232del , LRG_388t1:c.808+232del (ACTC1)	NP_005150.1:n.808+232del
NR_120329.1:n.299+14427del (GJD2-DT)
NM_005159.5:c.808+232del (ACTC1) MANE Select	NP_005150.1:n.808+232del