Canonical Allele Identifier: CA529915258

Gene: ACTA1

Linked Data

• dbSNP Id: rs1558081398
• gnomAD v2: 1-229567389-TCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCAC-T
• gnomAD v4: 1-229431642-TCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCAC-T
• MyVariant Identifiers: chr1:g.229567390_229567467del (hg19) ; chr1:g.229431643_229431720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431645_229431722del , CM000663.2:g.229431645_229431722del	GRCh38
NC_000001.10:g.229567392_229567469del , CM000663.1:g.229567392_229567469del	GRCh37
NC_000001.9:g.227634015_227634092del	NCBI36
NG_006672.1:g.7377_7454del , LRG_429:g.7377_7454del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.990+1_991-79del
ENST00000684723.1:c.855+1_856-1del
ENST00000366683.3:c.621+1_622-1del
ENST00000366684.7:c.990+1_991-1del
NM_001100.3:c.990+1_991-1del , LRG_429t1:c.990+1_991-1del
NM_001100.4:c.990+1_991-1del