Canonical Allele Identifier: CA2650926590

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431679-TGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431681_229431683del , CM000663.2:g.229431681_229431683del	GRCh38
NC_000001.10:g.229567428_229567430del , CM000663.1:g.229567428_229567430del	GRCh37
NC_000001.9:g.227634051_227634053del	NCBI36
NG_006672.1:g.7415_7417del , LRG_429:g.7415_7417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.990+39_990+41del	ENSP00000355644.4:n.990+39_990+41del
ENST00000684723.1:c.856-40_856-38del	ENSP00000508084.1:n.856-40_856-38del
ENST00000366683.3:c.622-40_622-38del	ENSP00000355644.3:n.622-40_622-38del
ENST00000366684.7:c.991-40_991-38del MANE Select	ENSP00000355645.3:n.991-40_991-38del
NM_001100.3:c.991-40_991-38del , LRG_429t1:c.991-40_991-38del	NP_001091.1:n.991-40_991-38del
NM_001100.4:c.991-40_991-38del MANE Select	NP_001091.1:n.991-40_991-38del