Canonical Allele Identifier: CA2627662116
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34790983-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790985del , CM000677.2:g.34790985del GRCh38
NC_000015.9:g.35083186del , CM000677.1:g.35083186del GRCh37
NC_000015.8:g.32870478del NCBI36
NG_007553.1:g.9743del , LRG_388:g.9743del

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1890+130del (ACTC1)
ENST00000290378.6:c.990+130del (ACTC1) MANE Select ENSP00000290378.4:n.990+130del
ENST00000647798.1:n.1084+130del (ACTC1)
ENST00000650163.1:n.1070+130del (ACTC1)
ENST00000290378.4:c.990+130del (ACTC1) ENSP00000290378.4:n.990+130del
NM_005159.4:c.990+130del , LRG_388t1:c.990+130del (ACTC1) NP_005150.1:n.990+130del
NR_120329.1:n.299+13554del (GJD2-DT)
NM_005159.5:c.990+130del (ACTC1) MANE Select NP_005150.1:n.990+130del
Search 100 bp 5'
Search 100 bp 3'