Canonical Allele Identifier: CA2650926671
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432302-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432304del , CM000663.2:g.229432304del GRCh38
NC_000001.10:g.229568051del , CM000663.1:g.229568051del GRCh37
NC_000001.9:g.227634674del NCBI36
NG_006672.1:g.6794del , LRG_429:g.6794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.583del ENSP00000355644.4:p.Leu195SerfsTer9
ENST00000684723.1:c.448del ENSP00000508084.1:p.Leu150SerfsTer9
ENST00000366683.3:c.479+104del ENSP00000355644.3:n.479+104del
ENST00000366684.7:c.583del MANE Select ENSP00000355645.3:p.Leu195SerfsTer9
NM_001100.3:c.583del , LRG_429t1:c.583del NP_001091.1:p.Leu195SerfsTer9
NM_001100.4:c.583del MANE Select NP_001091.1:p.Leu195SerfsTer9
Search 100 bp 5'
Search 100 bp 3'