Canonical Allele Identifier: CA2650926821
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432675-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432681dup , CM000663.2:g.229432681dup GRCh38
NC_000001.10:g.229568428dup , CM000663.1:g.229568428dup GRCh37
NC_000001.9:g.227635051dup NCBI36
NG_006672.1:g.6421dup , LRG_429:g.6421dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.334dup ENSP00000355644.4:p.Leu112ProfsTer16
ENST00000684723.1:c.199dup ENSP00000508084.1:p.Leu67ProfsTer16
ENST00000366683.3:c.334dup ENSP00000355644.3:p.Leu112ProfsTer16
ENST00000366684.7:c.334dup MANE Select ENSP00000355645.3:p.Leu112ProfsTer16
NM_001100.3:c.334dup , LRG_429t1:c.334dup NP_001091.1:p.Leu112ProfsTer16
NM_001100.4:c.334dup MANE Select NP_001091.1:p.Leu112ProfsTer16
Search 100 bp 5'
Search 100 bp 3'