Canonical Allele Identifier: CA2169205023
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790976_34790977delinsGA , CM000677.2:g.34790976_34790977delinsGA GRCh38
NC_000015.9:g.35083177_35083178delinsGA , CM000677.1:g.35083177_35083178delinsGA GRCh37
NC_000015.8:g.32870469_32870470delinsGA NCBI36
NG_007553.1:g.9750_9751delinsTC , LRG_388:g.9750_9751delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1890+137_1890+138delinsTC (ACTC1)
ENST00000290378.6:c.990+137_990+138delinsTC (ACTC1) MANE Select ENSP00000290378.4:n.990+137_990+138delinsTC
ENST00000647798.1:n.1084+137_1084+138delinsTC (ACTC1)
ENST00000650163.1:n.1070+137_1070+138delinsTC (ACTC1)
ENST00000290378.4:c.990+137_990+138delinsTC (ACTC1) ENSP00000290378.4:n.990+137_990+138delinsTC
NM_005159.4:c.990+137_990+138delinsTC , LRG_388t1:c.990+137_990+138delinsTC (ACTC1) NP_005150.1:n.990+137_990+138delinsTC
NR_120329.1:n.299+13545_299+13546delinsGA (GJD2-DT)
NM_005159.5:c.990+137_990+138delinsTC (ACTC1) MANE Select NP_005150.1:n.990+137_990+138delinsTC
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