Canonical Allele Identifier: CA2748054867
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431445_229431447dup , CM000663.2:g.229431445_229431447dup GRCh38
NC_000001.10:g.229567192_229567194dup , CM000663.1:g.229567192_229567194dup GRCh37
NC_000001.9:g.227633815_227633817dup NCBI36
NG_006672.1:g.7654_7656dup , LRG_429:g.7654_7656dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.*56_*58dup ENSP00000355644.4:n.*56_*58dup
ENST00000684723.1:c.*56_*58dup ENSP00000508084.1:n.*56_*58dup
ENST00000366683.3:c.*56_*58dup ENSP00000355644.3:n.*56_*58dup
ENST00000366684.7:c.*56_*58dup MANE Select ENSP00000355645.3:n.*56_*58dup
NM_001100.3:c.*56_*58dup , LRG_429t1:c.*56_*58dup NP_001091.1:n.*56_*58dup
NM_001100.4:c.*56_*58dup MANE Select NP_001091.1:n.*56_*58dup
Search 100 bp 5'
Search 100 bp 3'