Canonical Allele Identifier: CA617555397
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1634056
ClinVar RCV Id: RCV002124320 RCV003533132
dbSNP Id: rs2140432284
gnomAD v2: 15-35085780-G-GA
gnomAD v4: 15-34793579-G-GA
MyVariant Identifiers: chr15:g.35085780_35085781insA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793585dup , CM000677.2:g.34793585dup GRCh38
NC_000015.9:g.35085786dup , CM000677.1:g.35085786dup GRCh37
NC_000015.8:g.32873078dup NCBI36
NG_007553.1:g.7147dup , LRG_388:g.7147dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.236-11dup (ACTC1)
ENST00000290378.6:c.130-11dup (ACTC1) MANE Select ENSP00000290378.4:n.130-11dup
ENST00000647798.1:n.277-11dup (ACTC1)
ENST00000648556.1:n.287-11dup (ACTC1)
ENST00000650163.1:n.210-11dup (ACTC1)
ENST00000290378.4:c.130-11dup (ACTC1) ENSP00000290378.4:n.130-11dup
NM_005159.4:c.130-11dup , LRG_388t1:c.130-11dup (ACTC1) NP_005150.1:n.130-11dup
NR_120329.1:n.299+16154dup (GJD2-DT)
NM_005159.5:c.130-11dup (ACTC1) MANE Select NP_005150.1:n.130-11dup
Search 100 bp 5'
Search 100 bp 3'