Canonical Allele Identifier: CA1442776

Gene: ACTA1

Linked Data

• dbSNP Id: rs748076340
• ExAC: 1:229567667 GAGCGT / G
• gnomAD v2: 1-229567667-GAGCGT-G
• gnomAD v4: 1-229431920-GAGCGT-G
• MyVariant Identifiers: chr1:g.229567668_229567672del (hg19) ; chr1:g.229431921_229431925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431921_229431925del , CM000663.2:g.229431921_229431925del	GRCh38
NC_000001.10:g.229567668_229567672del , CM000663.1:g.229567668_229567672del	GRCh37
NC_000001.9:g.227634291_227634295del	NCBI36
NG_006672.1:g.7172_7176del , LRG_429:g.7172_7176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.809-23_809-19del	ENSP00000355644.4:n.809-23_809-19del
ENST00000684723.1:c.674-23_674-19del	ENSP00000508084.1:n.674-23_674-19del
ENST00000366683.3:c.480-63_480-59del	ENSP00000355644.3:n.480-63_480-59del
ENST00000366684.7:c.809-23_809-19del MANE Select	ENSP00000355645.3:n.809-23_809-19del
NM_001100.3:c.809-23_809-19del , LRG_429t1:c.809-23_809-19del	NP_001091.1:n.809-23_809-19del
NM_001100.4:c.809-23_809-19del MANE Select	NP_001091.1:n.809-23_809-19del