Canonical Allele Identifier: CA712281937
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1357531405
MyVariant Identifiers: chr15:g.35086888_35086889insT (hg19) chr15:g.34794687_34794688insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794687_34794688insT , CM000677.2:g.34794687_34794688insT GRCh38
NC_000015.9:g.35086888_35086889insT , CM000677.1:g.35086888_35086889insT GRCh37
NC_000015.8:g.32874180_32874181insT NCBI36
NG_007553.1:g.6039_6040insA , LRG_388:g.6039_6040insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.227_228insA (ACTC1)
ENST00000290378.6:c.121_122insA (ACTC1) MANE Select ENSP00000290378.4:p.Arg41GlnfsTer18
ENST00000290378.4:c.121_122insA (ACTC1) ENSP00000290378.4:p.Arg41GlnfsTer18
NM_005159.4:c.121_122insA , LRG_388t1:c.121_122insA (ACTC1) NP_005150.1:p.Arg41GlnfsTer18
NR_120329.1:n.300-15809_300-15808insT (GJD2-DT)
NM_005159.5:c.121_122insA (ACTC1) MANE Select NP_005150.1:p.Arg41GlnfsTer18
Search 100 bp 5'
Search 100 bp 3'