Canonical Allele Identifier: CA2627663336
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34793399-GGGAGCCACAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793405_34793414del , CM000677.2:g.34793405_34793414del GRCh38
NC_000015.9:g.35085606_35085615del , CM000677.1:g.35085606_35085615del GRCh37
NC_000015.8:g.32872898_32872907del NCBI36
NG_007553.1:g.7318_7327del , LRG_388:g.7318_7327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.396_405del (ACTC1)
ENST00000290378.6:c.290_299del (ACTC1) MANE Select ENSP00000290378.4:p.Arg97ProfsTer13
ENST00000647798.1:n.437_446del (ACTC1)
ENST00000648556.1:n.447_456del (ACTC1)
ENST00000650163.1:n.370_379del (ACTC1)
ENST00000290378.4:c.290_299del (ACTC1) ENSP00000290378.4:p.Arg97ProfsTer13
NM_005159.4:c.290_299del , LRG_388t1:c.290_299del (ACTC1) NP_005150.1:p.Arg97ProfsTer13
NR_120329.1:n.299+15974_299+15983del (GJD2-DT)
NM_005159.5:c.290_299del (ACTC1) MANE Select NP_005150.1:p.Arg97ProfsTer13
Search 100 bp 5'
Search 100 bp 3'