Canonical Allele Identifier: CA2650926705

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432471-GCCGAGGCTAGGCTCTCAGCGCTAGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432472_229432499del , CM000663.2:g.229432472_229432499del	GRCh38
NC_000001.10:g.229568219_229568246del , CM000663.1:g.229568219_229568246del	GRCh37
NC_000001.9:g.227634842_227634869del	NCBI36
NG_006672.1:g.6598_6625del , LRG_429:g.6598_6625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.454+57_455-41del	ENSP00000355644.4:n.454+57_455-41del
ENST00000684723.1:c.319+57_320-41del	ENSP00000508084.1:n.319+57_320-41del
ENST00000366683.3:c.454+57_455-41del	ENSP00000355644.3:n.454+57_455-41del
ENST00000366684.7:c.454+57_455-41del MANE Select	ENSP00000355645.3:n.454+57_455-41del
NM_001100.3:c.454+57_455-41del , LRG_429t1:c.454+57_455-41del	NP_001091.1:n.454+57_455-41del
NM_001100.4:c.454+57_455-41del MANE Select	NP_001091.1:n.454+57_455-41del