Canonical Allele Identifier: CA2627661961

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34790260-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790263del , CM000677.2:g.34790263del	GRCh38
NC_000015.9:g.35082464del , CM000677.1:g.35082464del	GRCh37
NC_000015.8:g.32869756del	NCBI36
NG_007553.1:g.10466del , LRG_388:g.10466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2185del (ACTC1)
ENST00000290378.6:c.*151del (ACTC1) MANE Select	ENSP00000290378.4:n.*151del
ENST00000647798.1:n.1379del (ACTC1)
ENST00000650163.1:n.1365del (ACTC1)
ENST00000290378.4:c.*151del (ACTC1)	ENSP00000290378.4:n.*151del
NM_005159.4:c.*151del , LRG_388t1:c.*151del (ACTC1)	NP_005150.1:n.*151del
NR_120329.1:n.299+12832del (GJD2-DT)
NM_005159.5:c.*151del (ACTC1) MANE Select	NP_005150.1:n.*151del