Canonical Allele Identifier: CA2573132023

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 1451534
• ClinVar RCV Id: RCV002035327
• dbSNP Id: rs2102736194
• gnomAD v4: 1-229432609-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432610del , CM000663.2:g.229432610del	GRCh38
NC_000001.10:g.229568357del , CM000663.1:g.229568357del	GRCh37
NC_000001.9:g.227634980del	NCBI36
NG_006672.1:g.6487del , LRG_429:g.6487del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.400del	ENSP00000355644.4:p.Met134CysfsTer?
ENST00000684723.1:c.265del	ENSP00000508084.1:p.Met89CysfsTer?
ENST00000366683.3:c.400del	ENSP00000355644.3:p.Met134CysfsTer29
ENST00000366684.7:c.400del MANE Select	ENSP00000355645.3:p.Met134CysfsTer?
NM_001100.3:c.400del , LRG_429t1:c.400del	NP_001091.1:p.Met134CysfsTer?
NM_001100.4:c.400del MANE Select	NP_001091.1:p.Met134CysfsTer?