Canonical Allele Identifier: CA968569423
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v3: 15-34791306-G-GACACAC
gnomAD v4: 15-34791306-G-GACACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791306_34791307insACACAC , CM000677.2:g.34791306_34791307insACACAC GRCh38
NC_000015.9:g.35083507_35083508insACACAC , CM000677.1:g.35083507_35083508insACACAC GRCh37
NC_000015.8:g.32870799_32870800insACACAC NCBI36
NG_007553.1:g.9420_9421insGTGTGT , LRG_388:g.9420_9421insGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1697_1698insGTGTGT (ACTC1)
ENST00000290378.6:c.809-12_809-11insGTGTGT (ACTC1) MANE Select ENSP00000290378.4:n.809-12_809-11insGTGTGT
ENST00000647798.1:n.903-12_903-11insGTGTGT (ACTC1)
ENST00000650163.1:n.889-12_889-11insGTGTGT (ACTC1)
ENST00000290378.4:c.809-12_809-11insGTGTGT (ACTC1) ENSP00000290378.4:n.809-12_809-11insGTGTGT
ENST00000557860.1:n.499-12_499-11insGTGTGT (ACTC1)
NM_005159.4:c.809-12_809-11insGTGTGT , LRG_388t1:c.809-12_809-11insGTGTGT (ACTC1) NP_005150.1:n.809-12_809-11insGTGTGT
NR_120329.1:n.299+13875_299+13876insACACAC (GJD2-DT)
NM_005159.5:c.809-12_809-11insGTGTGT (ACTC1) MANE Select NP_005150.1:n.809-12_809-11insGTGTGT
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