Canonical Allele Identifier: CA968570528
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891754701
gnomAD v3: 15-34793605-C-CATGGT
gnomAD v4: 15-34793605-C-CATGGT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793605_34793606insATGGT , CM000677.2:g.34793605_34793606insATGGT GRCh38
NC_000015.9:g.35085806_35085807insATGGT , CM000677.1:g.35085806_35085807insATGGT GRCh37
NC_000015.8:g.32873098_32873099insATGGT NCBI36
NG_007553.1:g.7121_7122insACCAT , LRG_388:g.7121_7122insACCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.236-37_236-36insACCAT (ACTC1)
ENST00000290378.6:c.130-37_130-36insACCAT (ACTC1) MANE Select ENSP00000290378.4:n.130-37_130-36insACCAT
ENST00000647798.1:n.277-37_277-36insACCAT (ACTC1)
ENST00000648556.1:n.287-37_287-36insACCAT (ACTC1)
ENST00000650163.1:n.210-37_210-36insACCAT (ACTC1)
ENST00000290378.4:c.130-37_130-36insACCAT (ACTC1) ENSP00000290378.4:n.130-37_130-36insACCAT
NM_005159.4:c.130-37_130-36insACCAT , LRG_388t1:c.130-37_130-36insACCAT (ACTC1) NP_005150.1:n.130-37_130-36insACCAT
NR_120329.1:n.299+16174_299+16175insATGGT (GJD2-DT)
NM_005159.5:c.130-37_130-36insACCAT (ACTC1) MANE Select NP_005150.1:n.130-37_130-36insACCAT
Search 100 bp 5'
Search 100 bp 3'