Canonical Allele Identifier: CA2573132002

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 1514282
• ClinVar RCV Id: RCV002048222
• dbSNP Id: rs2102735016

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431576_229431592del , CM000663.2:g.229431576_229431592del	GRCh38
NC_000001.10:g.229567323_229567339del , CM000663.1:g.229567323_229567339del	GRCh37
NC_000001.9:g.227633946_227633962del	NCBI36
NG_006672.1:g.7508_7524del , LRG_429:g.7508_7524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-25_991-9del	ENSP00000355644.4:n.991-25_991-9del
ENST00000684723.1:c.909_925del	ENSP00000508084.1:p.Ala304ProfsTer?
ENST00000366683.3:c.675_691del	ENSP00000355644.3:p.Ala226ProfsTer?
ENST00000366684.7:c.1044_1060del MANE Select	ENSP00000355645.3:p.Ala349ProfsTer?
NM_001100.3:c.1044_1060del , LRG_429t1:c.1044_1060del	NP_001091.1:p.Ala349ProfsTer?
NM_001100.4:c.1044_1060del MANE Select	NP_001091.1:p.Ala349ProfsTer?