Canonical Allele Identifier: CA1226125468

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431732_229431739delinsTGGTGCTG , CM000663.2:g.229431732_229431739delinsTGGTGCTG	GRCh38
NC_000001.10:g.229567479_229567486delinsTGGTGCTG , CM000663.1:g.229567479_229567486delinsTGGTGCTG	GRCh37
NC_000001.9:g.227634102_227634109delinsTGGTGCTG	NCBI36
NG_006672.1:g.7358_7365delinsCAGCACCA , LRG_429:g.7358_7365delinsCAGCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.972_979delinsCAGCACCA	ENSP00000355644.4:p.Pro324=
ENST00000684723.1:c.837_844delinsCAGCACCA	ENSP00000508084.1:p.Pro279=
ENST00000366683.3:c.603_610delinsCAGCACCA	ENSP00000355644.3:p.Pro201=
ENST00000366684.7:c.972_979delinsCAGCACCA MANE Select	ENSP00000355645.3:p.Pro324=
NM_001100.3:c.972_979delinsCAGCACCA , LRG_429t1:c.972_979delinsCAGCACCA	NP_001091.1:p.Pro324=
NM_001100.4:c.972_979delinsCAGCACCA MANE Select	NP_001091.1:p.Pro324=