Canonical Allele Identifier: CA16617086
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421346
ClinVar RCV Id: RCV000482001
dbSNP Id: rs1064795075

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432681_229432687delinsACCTCGA , CM000663.2:g.229432681_229432687delinsACCTCGA GRCh38
NC_000001.10:g.229568428_229568434delinsACCTCGA , CM000663.1:g.229568428_229568434delinsACCTCGA GRCh37
NC_000001.9:g.227635051_227635057delinsACCTCGA NCBI36
NG_006672.1:g.6410_6416delinsTCGAGGT , LRG_429:g.6410_6416delinsTCGAGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.323_329delinsTCGAGGT ENSP00000355644.4:p.Thr108_Ala110delinsIl...
ENST00000684723.1:c.188_194delinsTCGAGGT ENSP00000508084.1:p.Thr63_Ala65delinsIleG...
ENST00000366683.3:c.323_329delinsTCGAGGT ENSP00000355644.3:p.Thr108_Ala110delinsIl...
ENST00000366684.7:c.323_329delinsTCGAGGT MANE Select ENSP00000355645.3:p.Thr108_Ala110delinsIl...
NM_001100.3:c.323_329delinsTCGAGGT , LRG_429t1:c.323_329delinsTCGAGGT NP_001091.1:p.Thr108_Ala110delinsIleGluVa...
NM_001100.4:c.323_329delinsTCGAGGT MANE Select NP_001091.1:p.Thr108_Ala110delinsIleGluVa...