Canonical Allele Identifier: CA1226125675
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432192_229432193delinsAG , CM000663.2:g.229432192_229432193delinsAG GRCh38
NC_000001.10:g.229567939_229567940delinsAG , CM000663.1:g.229567939_229567940delinsAG GRCh37
NC_000001.9:g.227634562_227634563delinsAG NCBI36
NG_006672.1:g.6904_6905delinsCT , LRG_429:g.6904_6905delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-8_617-7delinsCT ENSP00000355644.4:n.617-8_617-7delinsCT
ENST00000684723.1:c.482-8_482-7delinsCT ENSP00000508084.1:n.482-8_482-7delinsCT
ENST00000366683.3:c.479+214_479+215delinsCT ENSP00000355644.3:n.479+214_479+215delinsCT
ENST00000366684.7:c.617-8_617-7delinsCT MANE Select ENSP00000355645.3:n.617-8_617-7delinsCT
NM_001100.3:c.617-8_617-7delinsCT , LRG_429t1:c.617-8_617-7delinsCT NP_001091.1:n.617-8_617-7delinsCT
NM_001100.4:c.617-8_617-7delinsCT MANE Select NP_001091.1:n.617-8_617-7delinsCT