Canonical Allele Identifier: CA1842549

Gene: ACTR3

Linked Data

• ClinVar Variation Id: 783339
• ClinVar RCV Id: RCV000964872
• dbSNP Id: rs147159854
• ExAC: 2:114699940 A / AT
• gnomAD v2: 2-114699940-A-AT
• gnomAD v3: 2-113942363-A-AT
• gnomAD v4: 2-113942363-A-AT
• MyVariant Identifiers: chr2:g.114699941_114699942insT (hg19) ; chr2:g.114699940_114699941insT (hg19) ; chr2:g.113942364_113942365insT (hg38) ; chr2:g.113942363_113942364insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113942371dup , CM000664.2:g.113942371dup	GRCh38
NC_000002.11:g.114699948dup , CM000664.1:g.114699948dup	GRCh37
NC_000002.10:g.114416418dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263238.7:c.858+12dup MANE Select	ENSP00000263238.2:n.858+12dup
ENST00000263238.6:c.858+12dup	ENSP00000263238.2:n.858+12dup
ENST00000535589.3:c.705+12dup	ENSP00000444987.1:n.705+12dup
NM_001277140.1:c.705+12dup	NP_001264069.1:n.705+12dup
NM_005721.4:c.858+12dup	NP_005712.1:n.858+12dup
NR_102318.1:n.1079+12dup
NM_005721.5:c.858+12dup MANE Select	NP_005712.1:n.858+12dup