Canonical Allele Identifier: CA913399624

Gene: ACTA1

Linked Data

• gnomAD v2: 1-229568246-C-CGG
• gnomAD v3: 1-229432499-C-CGG
• gnomAD v4: 1-229432499-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432503_229432504dup , CM000663.2:g.229432503_229432504dup	GRCh38
NC_000001.10:g.229568250_229568251dup , CM000663.1:g.229568250_229568251dup	GRCh37
NC_000001.9:g.227634873_227634874dup	NCBI36
NG_006672.1:g.6596_6597dup , LRG_429:g.6596_6597dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.454+55_454+56dup	ENSP00000355644.4:n.454+55_454+56dup
ENST00000684723.1:c.319+55_319+56dup	ENSP00000508084.1:n.319+55_319+56dup
ENST00000366683.3:c.454+55_454+56dup	ENSP00000355644.3:n.454+55_454+56dup
ENST00000366684.7:c.454+55_454+56dup MANE Select	ENSP00000355645.3:n.454+55_454+56dup
NM_001100.3:c.454+55_454+56dup , LRG_429t1:c.454+55_454+56dup	NP_001091.1:n.454+55_454+56dup
NM_001100.4:c.454+55_454+56dup MANE Select	NP_001091.1:n.454+55_454+56dup