Canonical Allele Identifier: CA529915297

Gene: ACTA1

Linked Data

• dbSNP Id: rs1185680297
• gnomAD v2: 1-229568192-GGAGA-G
• gnomAD v3: 1-229432445-GGAGA-G
• gnomAD v4: 1-229432445-GGAGA-G
• MyVariant Identifiers: chr1:g.229568193_229568196del (hg19) ; chr1:g.229432446_229432449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432449_229432452del , CM000663.2:g.229432449_229432452del	GRCh38
NC_000001.10:g.229568196_229568199del , CM000663.1:g.229568196_229568199del	GRCh37
NC_000001.9:g.227634819_227634822del	NCBI36
NG_006672.1:g.6648_6651del , LRG_429:g.6648_6651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.455-18_455-15del	ENSP00000355644.4:n.455-18_455-15del
ENST00000684723.1:c.320-18_320-15del	ENSP00000508084.1:n.320-18_320-15del
ENST00000366683.3:c.455-18_455-15del	ENSP00000355644.3:n.455-18_455-15del
ENST00000366684.7:c.455-18_455-15del MANE Select	ENSP00000355645.3:n.455-18_455-15del
NM_001100.3:c.455-18_455-15del , LRG_429t1:c.455-18_455-15del	NP_001091.1:n.455-18_455-15del
NM_001100.4:c.455-18_455-15del MANE Select	NP_001091.1:n.455-18_455-15del