Canonical Allele Identifier: CA38814442
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs35719113
MyVariant Identifiers: chr1:g.229566850_229566851insG (hg19) chr1:g.229431103_229431104insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431107dup , CM000663.2:g.229431107dup GRCh38
NC_000001.10:g.229566854dup , CM000663.1:g.229566854dup GRCh37
NC_000001.9:g.227633477dup NCBI36
NG_006672.1:g.7993dup , LRG_429:g.7993dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*395dup ENSP00000508084.1:n.*395dup
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