Canonical Allele Identifier: CA2627661950

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34790236-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790237del , CM000677.2:g.34790237del	GRCh38
NC_000015.9:g.35082438del , CM000677.1:g.35082438del	GRCh37
NC_000015.8:g.32869730del	NCBI36
NG_007553.1:g.10490del , LRG_388:g.10490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2209del (ACTC1)
ENST00000290378.6:c.*175del (ACTC1) MANE Select	ENSP00000290378.4:n.*175del
ENST00000647798.1:n.1403del (ACTC1)
ENST00000650163.1:n.1389del (ACTC1)
ENST00000290378.4:c.*175del (ACTC1)	ENSP00000290378.4:n.*175del
NM_005159.4:c.*175del , LRG_388t1:c.*175del (ACTC1)	NP_005150.1:n.*175del
NR_120329.1:n.299+12806del (GJD2-DT)
NM_005159.5:c.*175del (ACTC1) MANE Select	NP_005150.1:n.*175del