Canonical Allele Identifier: CA529915234

Gene: ACTA1

Linked Data

• dbSNP Id: rs1558081495
• gnomAD v2: 1-229567647-TACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTC-T
• gnomAD v4: 1-229431900-TACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTC-T
• MyVariant Identifiers: chr1:g.229567648_229567738del (hg19) ; chr1:g.229431901_229431991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431904_229431994del , CM000663.2:g.229431904_229431994del	GRCh38
NC_000001.10:g.229567651_229567741del , CM000663.1:g.229567651_229567741del	GRCh37
NC_000001.9:g.227634274_227634364del	NCBI36
NG_006672.1:g.7106_7196del , LRG_429:g.7106_7196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.808+3_810del
ENST00000684723.1:c.673+3_675del
ENST00000366683.3:c.480-129_480-39del	ENSP00000355644.3:n.480-129_480-39del
ENST00000366684.7:c.808+3_810del
NM_001100.3:c.808+3_810del , LRG_429t1:c.808+3_810del
NM_001100.4:c.808+3_810del