Canonical Allele Identifier: CA2650926677

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432418-GTCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432419_229432422del , CM000663.2:g.229432419_229432422del	GRCh38
NC_000001.10:g.229568166_229568169del , CM000663.1:g.229568166_229568169del	GRCh37
NC_000001.9:g.227634789_227634792del	NCBI36
NG_006672.1:g.6675_6678del , LRG_429:g.6675_6678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.464_467del	ENSP00000355644.4:p.Leu155ProfsTer?
ENST00000684723.1:c.329_332del	ENSP00000508084.1:p.Leu110ProfsTer?
ENST00000366683.3:c.464_467del	ENSP00000355644.3:p.Leu155ProfsTer7
ENST00000366684.7:c.464_467del MANE Select	ENSP00000355645.3:p.Leu155ProfsTer?
NM_001100.3:c.464_467del , LRG_429t1:c.464_467del	NP_001091.1:p.Leu155ProfsTer?
NM_001100.4:c.464_467del MANE Select	NP_001091.1:p.Leu155ProfsTer?