Canonical Allele Identifier: CA2580611238
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1633317
ClinVar RCV Id: RCV002121765
dbSNP Id: rs2102735162
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431715_229431717dup , CM000663.2:g.229431715_229431717dup GRCh38
NC_000001.10:g.229567462_229567464dup , CM000663.1:g.229567462_229567464dup GRCh37
NC_000001.9:g.227634085_227634087dup NCBI36
NG_006672.1:g.7385_7387dup , LRG_429:g.7385_7387dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+9_990+11dup ENSP00000355644.4:n.990+9_990+11dup
ENST00000684723.1:c.855+9_855+11dup ENSP00000508084.1:n.855+9_855+11dup
ENST00000366683.3:c.621+9_621+11dup ENSP00000355644.3:n.621+9_621+11dup
ENST00000366684.7:c.990+9_990+11dup MANE Select ENSP00000355645.3:n.990+9_990+11dup
NM_001100.3:c.990+9_990+11dup , LRG_429t1:c.990+9_990+11dup NP_001091.1:n.990+9_990+11dup
NM_001100.4:c.990+9_990+11dup MANE Select NP_001091.1:n.990+9_990+11dup
Search 100 bp 5'
Search 100 bp 3'