Canonical Allele Identifier: CA2508597817
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431930_229431931insTGAGTTG , CM000663.2:g.229431930_229431931insTGAGTTG GRCh38
NC_000001.10:g.229567677_229567678insTGAGTTG , CM000663.1:g.229567677_229567678insTGAGTTG GRCh37
NC_000001.9:g.227634300_227634301insTGAGTTG NCBI36
NG_006672.1:g.7166_7167insCAACTCA , LRG_429:g.7166_7167insCAACTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-29_809-28insCAACTCA ENSP00000355644.4:n.809-29_809-28insCAACTCA
ENST00000684723.1:c.674-29_674-28insCAACTCA ENSP00000508084.1:n.674-29_674-28insCAACTCA
ENST00000366683.3:c.480-69_480-68insCAACTCA ENSP00000355644.3:n.480-69_480-68insCAACTCA
ENST00000366684.7:c.809-29_809-28insCAACTCA MANE Select ENSP00000355645.3:n.809-29_809-28insCAACTCA
NM_001100.3:c.809-29_809-28insCAACTCA , LRG_429t1:c.809-29_809-28insCAACTCA NP_001091.1:n.809-29_809-28insCAACTCA
NM_001100.4:c.809-29_809-28insCAACTCA MANE Select NP_001091.1:n.809-29_809-28insCAACTCA