Canonical Allele Identifier: CA019662
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 35645
ClinVar RCV Id: RCV001530117 RCV001698944 RCV002054477
dbSNP Id: rs386134228
ExAC: 15:35086861 G / GA
gnomAD v2: 15-35086861-G-GA
gnomAD v3: 15-34794660-G-GA
gnomAD v4: 15-34794660-G-GA
MyVariant Identifiers: chr15:g.35086861_35086862insA (hg19) chr15:g.34794660_34794661insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794660_34794661insA , CM000677.2:g.34794660_34794661insA GRCh38
NC_000015.9:g.35086861_35086862insA , CM000677.1:g.35086861_35086862insA GRCh37
NC_000015.8:g.32874153_32874154insA NCBI36
NG_007553.1:g.6066_6067insT , LRG_388:g.6066_6067insT

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+19_235+20insT (ACTC1)
ENST00000290378.6:c.129+19_129+20insT (ACTC1) MANE Select ENSP00000290378.4:n.129+19_129+20insT
ENST00000290378.4:c.129+19_129+20insT (ACTC1) ENSP00000290378.4:n.129+19_129+20insT
NM_005159.4:c.129+19_129+20insT , LRG_388t1:c.129+19_129+20insT (ACTC1) NP_005150.1:n.129+19_129+20insT
NR_120329.1:n.300-15836_300-15835insA (GJD2-DT)
NM_005159.5:c.129+19_129+20insT (ACTC1) MANE Select NP_005150.1:n.129+19_129+20insT
Search 100 bp 5'
Search 100 bp 3'