Canonical Allele Identifier: CA16617083

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 421220
• ClinVar RCV Id: RCV000478337
• dbSNP Id: rs1064794988

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431921_229431937delinsGAGCGTGAGCAGAAGCT , CM000663.2:g.229431921_229431937delinsGAGCGTGAGCAGAAGCT	GRCh38
NC_000001.10:g.229567668_229567684delinsGAGCGTGAGCAGAAGCT , CM000663.1:g.229567668_229567684delinsGAGCGTGAGCAGAAGCT	GRCh37
NC_000001.9:g.227634291_227634307delinsGAGCGTGAGCAGAAGCT	NCBI36
NG_006672.1:g.7160_7176delinsAGCTTCTGCTCACGCTC , LRG_429:g.7160_7176delinsAGCTTCTGCTCACGCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.809-35_809-19delinsAGCTTCTGCTCACGCTC	ENSP00000355644.4:n.809-35_809-19delinsAG...
ENST00000684723.1:c.674-35_674-19delinsAGCTTCTGCTCACGCTC	ENSP00000508084.1:n.674-35_674-19delinsAG...
ENST00000366683.3:c.480-75_480-59delinsAGCTTCTGCTCACGCTC	ENSP00000355644.3:n.480-75_480-59delinsAG...
ENST00000366684.7:c.809-35_809-19delinsAGCTTCTGCTCACGCTC MANE Select	ENSP00000355645.3:n.809-35_809-19delinsAG...
NM_001100.3:c.809-35_809-19delinsAGCTTCTGCTCACGCTC , LRG_429t1:c.809-35_809-19delinsAGCTTCTGCTCACGCTC	NP_001091.1:n.809-35_809-19delinsAGCTTCTG...
NM_001100.4:c.809-35_809-19delinsAGCTTCTGCTCACGCTC MANE Select	NP_001091.1:n.809-35_809-19delinsAGCTTCTG...