Canonical Allele Identifier: CA2627663274

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34793108-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793111del , CM000677.2:g.34793111del	GRCh38
NC_000015.9:g.35085312del , CM000677.1:g.35085312del	GRCh37
NC_000015.8:g.32872604del	NCBI36
NG_007553.1:g.7618del , LRG_388:g.7618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+136del (ACTC1)
ENST00000290378.6:c.454+136del (ACTC1) MANE Select	ENSP00000290378.4:n.454+136del
ENST00000647798.1:n.548+189del (ACTC1)
ENST00000648556.1:n.611+136del (ACTC1)
ENST00000650163.1:n.534+136del (ACTC1)
ENST00000290378.4:c.454+136del (ACTC1)	ENSP00000290378.4:n.454+136del
NM_005159.4:c.454+136del , LRG_388t1:c.454+136del (ACTC1)	NP_005150.1:n.454+136del
NR_120329.1:n.299+15680del (GJD2-DT)
NM_005159.5:c.454+136del (ACTC1) MANE Select	NP_005150.1:n.454+136del