Canonical Allele Identifier: CA423755024
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431799-GC-G
COSMIC: COSM1339910
MyVariant Identifiers: chr1:g.229567547del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431805del , CM000663.2:g.229431805del GRCh38
NC_000001.10:g.229567552del , CM000663.1:g.229567552del GRCh37
NC_000001.9:g.227634175del NCBI36
NG_006672.1:g.7297del , LRG_429:g.7297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.911del ENSP00000355644.4:p.Gly304AlafsTer24
ENST00000684723.1:c.776del ENSP00000508084.1:p.Gly259AlafsTer24
ENST00000366683.3:c.542del ENSP00000355644.3:p.Gly181AlafsTer24
ENST00000366684.7:c.911del MANE Select ENSP00000355645.3:p.Gly304AlafsTer24
NM_001100.3:c.911del , LRG_429t1:c.911del NP_001091.1:p.Gly304AlafsTer24
NM_001100.4:c.911del MANE Select NP_001091.1:p.Gly304AlafsTer24
Search 100 bp 5'
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