Canonical Allele Identifier: CA1226125314
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431440_229431443delinsGCCC , CM000663.2:g.229431440_229431443delinsGCCC GRCh38
NC_000001.10:g.229567187_229567190delinsGCCC , CM000663.1:g.229567187_229567190delinsGCCC GRCh37
NC_000001.9:g.227633810_227633813delinsGCCC NCBI36
NG_006672.1:g.7654_7657delinsGGGC , LRG_429:g.7654_7657delinsGGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.*56_*59delinsGGGC ENSP00000355644.4:n.*56_*59delinsGGGC
ENST00000684723.1:c.*56_*59delinsGGGC ENSP00000508084.1:n.*56_*59delinsGGGC
ENST00000366683.3:c.*56_*59delinsGGGC ENSP00000355644.3:n.*56_*59delinsGGGC
ENST00000366684.7:c.*56_*59delinsGGGC MANE Select ENSP00000355645.3:n.*56_*59delinsGGGC
NM_001100.3:c.*56_*59delinsGGGC , LRG_429t1:c.*56_*59delinsGGGC NP_001091.1:n.*56_*59delinsGGGC
NM_001100.4:c.*56_*59delinsGGGC MANE Select NP_001091.1:n.*56_*59delinsGGGC