Canonical Allele Identifier: CA2748068637
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431923_229431924insTAA , CM000663.2:g.229431923_229431924insTAA GRCh38
NC_000001.10:g.229567670_229567671insTAA , CM000663.1:g.229567670_229567671insTAA GRCh37
NC_000001.9:g.227634293_227634294insTAA NCBI36
NG_006672.1:g.7173_7174insTTA , LRG_429:g.7173_7174insTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-22_809-21insTTA ENSP00000355644.4:n.809-22_809-21insTTA
ENST00000684723.1:c.674-22_674-21insTTA ENSP00000508084.1:n.674-22_674-21insTTA
ENST00000366683.3:c.480-62_480-61insTTA ENSP00000355644.3:n.480-62_480-61insTTA
ENST00000366684.7:c.809-22_809-21insTTA MANE Select ENSP00000355645.3:n.809-22_809-21insTTA
NM_001100.3:c.809-22_809-21insTTA , LRG_429t1:c.809-22_809-21insTTA NP_001091.1:n.809-22_809-21insTTA
NM_001100.4:c.809-22_809-21insTTA MANE Select NP_001091.1:n.809-22_809-21insTTA