Canonical Allele Identifier: CA1442853

Gene: ACTA1

Linked Data

• dbSNP Id: rs767928898
• ExAC: 1:229568182 TGC / T
• gnomAD v2: 1-229568182-TGC-T
• gnomAD v4: 1-229432435-TGC-T
• MyVariant Identifiers: chr1:g.229568183_229568184del (hg19) ; chr1:g.229432436_229432437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432443_229432444del , CM000663.2:g.229432443_229432444del	GRCh38
NC_000001.10:g.229568190_229568191del , CM000663.1:g.229568190_229568191del	GRCh37
NC_000001.9:g.227634813_227634814del	NCBI36
NG_006672.1:g.6660_6661del , LRG_429:g.6660_6661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.455-6_455-5del	ENSP00000355644.4:n.455-6_455-5del
ENST00000684723.1:c.320-6_320-5del	ENSP00000508084.1:n.320-6_320-5del
ENST00000366683.3:c.455-6_455-5del	ENSP00000355644.3:n.455-6_455-5del
ENST00000366684.7:c.455-6_455-5del MANE Select	ENSP00000355645.3:n.455-6_455-5del
NM_001100.3:c.455-6_455-5del , LRG_429t1:c.455-6_455-5del	NP_001091.1:n.455-6_455-5del
NM_001100.4:c.455-6_455-5del MANE Select	NP_001091.1:n.455-6_455-5del