Canonical Allele Identifier: CA529915257

Gene: ACTA1

Linked Data

• gnomAD v2: 1-229567932-GCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCAC-G
• gnomAD v4: 1-229432185-GCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCAC-G
• MyVariant Identifiers: chr1:g.229567933_229568016del (hg19) ; chr1:g.229432186_229432269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432189_229432272del , CM000663.2:g.229432189_229432272del	GRCh38
NC_000001.10:g.229567936_229568019del , CM000663.1:g.229567936_229568019del	GRCh37
NC_000001.9:g.227634559_227634642del	NCBI36
NG_006672.1:g.6828_6911del , LRG_429:g.6828_6911del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.616+1_617-1del
ENST00000684723.1:c.481+1_482-1del
ENST00000366683.3:c.479+138_479+221del	ENSP00000355644.3:n.479+138_479+221del
ENST00000366684.7:c.616+1_617-1del
NM_001100.3:c.616+1_617-1del , LRG_429t1:c.616+1_617-1del
NM_001100.4:c.616+1_617-1del