Canonical Allele Identifier: CA617197295
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1362316743
gnomAD v2: 15-35084255-G-GA
gnomAD v3: 15-34792054-G-GA
gnomAD v4: 15-34792054-G-GA
MyVariant Identifiers: chr15:g.35084255_35084256insA (hg19) chr15:g.34792054_34792055insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792058dup , CM000677.2:g.34792058dup GRCh38
NC_000015.9:g.35084259dup , CM000677.1:g.35084259dup GRCh37
NC_000015.8:g.32871551dup NCBI36
NG_007553.1:g.8672dup , LRG_388:g.8672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.949dup (ACTC1)
ENST00000290378.6:c.808+35dup (ACTC1) MANE Select ENSP00000290378.4:n.808+35dup
ENST00000647798.1:n.902+35dup (ACTC1)
ENST00000650163.1:n.888+35dup (ACTC1)
ENST00000290378.4:c.808+35dup (ACTC1) ENSP00000290378.4:n.808+35dup
ENST00000557860.1:n.498+35dup (ACTC1)
ENST00000560563.1:n.342dup (ACTC1)
NM_005159.4:c.808+35dup , LRG_388t1:c.808+35dup (ACTC1) NP_005150.1:n.808+35dup
NR_120329.1:n.299+14627dup (GJD2-DT)
NM_005159.5:c.808+35dup (ACTC1) MANE Select NP_005150.1:n.808+35dup
Search 100 bp 5'
Search 100 bp 3'