Canonical Allele Identifier: CA2513508504
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431940_229431941insTA , CM000663.2:g.229431940_229431941insTA GRCh38
NC_000001.10:g.229567687_229567688insTA , CM000663.1:g.229567687_229567688insTA GRCh37
NC_000001.9:g.227634310_227634311insTA NCBI36
NG_006672.1:g.7156_7157insTA , LRG_429:g.7156_7157insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-39_809-38insTA ENSP00000355644.4:n.809-39_809-38insTA
ENST00000684723.1:c.674-39_674-38insTA ENSP00000508084.1:n.674-39_674-38insTA
ENST00000366683.3:c.480-79_480-78insTA ENSP00000355644.3:n.480-79_480-78insTA
ENST00000366684.7:c.809-39_809-38insTA MANE Select ENSP00000355645.3:n.809-39_809-38insTA
NM_001100.3:c.809-39_809-38insTA , LRG_429t1:c.809-39_809-38insTA NP_001091.1:n.809-39_809-38insTA
NM_001100.4:c.809-39_809-38insTA MANE Select NP_001091.1:n.809-39_809-38insTA