Canonical Allele Identifier: CA1226125750
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432344_229432345delinsTC , CM000663.2:g.229432344_229432345delinsTC GRCh38
NC_000001.10:g.229568091_229568092delinsTC , CM000663.1:g.229568091_229568092delinsTC GRCh37
NC_000001.9:g.227634714_227634715delinsTC NCBI36
NG_006672.1:g.6752_6753delinsGA , LRG_429:g.6752_6753delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.541_542delinsGA ENSP00000355644.4:p.Asp181=
ENST00000684723.1:c.406_407delinsGA ENSP00000508084.1:p.Asp136=
ENST00000366683.3:c.479+62_479+63delinsGA ENSP00000355644.3:n.479+62_479+63delinsGA
ENST00000366684.7:c.541_542delinsGA MANE Select ENSP00000355645.3:p.Asp181=
NM_001100.3:c.541_542delinsGA , LRG_429t1:c.541_542delinsGA NP_001091.1:p.Asp181=
NM_001100.4:c.541_542delinsGA MANE Select NP_001091.1:p.Asp181=
Search 100 bp 5'
Search 100 bp 3'