Canonical Allele Identifier: CA712313552
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1290694597
MyVariant Identifiers: chr15:g.35081299_35081300insGT (hg19) chr15:g.34789098_34789099insGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789098_34789099insGT , CM000677.2:g.34789098_34789099insGT GRCh38
NC_000015.9:g.35081299_35081300insGT , CM000677.1:g.35081299_35081300insGT GRCh37
NC_000015.8:g.32868591_32868592insGT NCBI36
NG_007553.1:g.11628_11629insAC , LRG_388:g.11628_11629insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1313_*1314insAC (ACTC1) ENSP00000290378.4:n.*1313_*1314insAC
NM_005159.4:c.*1313_*1314insAC , LRG_388t1:c.*1313_*1314insAC (ACTC1) NP_005150.1:n.*1313_*1314insAC
NR_120329.1:n.299+11667_299+11668insGT (GJD2-DT)
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