Canonical Allele Identifier: CA7466669
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315704
ClinVar RCV Id: RCV000262671 RCV000266301 RCV000320086 RCV000354972 RCV000377172
dbSNP Id: rs774238821
ExAC: 15:35083507 G / GAC
gnomAD v2: 15-35083507-G-GAC
gnomAD v3: 15-34791306-G-GAC
gnomAD v4: 15-34791306-G-GAC
MyVariant Identifiers: chr15:g.35083507_35083508insAC (hg19) chr15:g.35083508delinsACT (hg19) chr15:g.34791306_34791307insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791306_34791307insAC , CM000677.2:g.34791306_34791307insAC GRCh38
NC_000015.9:g.35083507_35083508insAC , CM000677.1:g.35083507_35083508insAC GRCh37
NC_000015.8:g.32870799_32870800insAC NCBI36
NG_007553.1:g.9420_9421insGT , LRG_388:g.9420_9421insGT

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1697_1698insGT (ACTC1)
ENST00000290378.6:c.809-12_809-11insGT (ACTC1) MANE Select ENSP00000290378.4:n.809-12_809-11insGT
ENST00000647798.1:n.903-12_903-11insGT (ACTC1)
ENST00000650163.1:n.889-12_889-11insGT (ACTC1)
ENST00000290378.4:c.809-12_809-11insGT (ACTC1) ENSP00000290378.4:n.809-12_809-11insGT
ENST00000557860.1:n.499-12_499-11insGT (ACTC1)
NM_005159.4:c.809-12_809-11insGT , LRG_388t1:c.809-12_809-11insGT (ACTC1) NP_005150.1:n.809-12_809-11insGT
NR_120329.1:n.299+13875_299+13876insAC (GJD2-DT)
NM_005159.5:c.809-12_809-11insGT (ACTC1) MANE Select NP_005150.1:n.809-12_809-11insGT
Search 100 bp 5'
Search 100 bp 3'