Canonical Allele Identifier: CA2573051511

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 1323850
• ClinVar RCV Id: RCV001785883
• dbSNP Id: rs2102736351

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432773_229432774delinsT , CM000663.2:g.229432773_229432774delinsT	GRCh38
NC_000001.10:g.229568520_229568521delinsT , CM000663.1:g.229568520_229568521delinsT	GRCh37
NC_000001.9:g.227635143_227635144delinsT	NCBI36
NG_006672.1:g.6323_6324delinsA , LRG_429:g.6323_6324delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.236_237delinsA	ENSP00000355644.4:p.Thr79LysfsTer?
ENST00000684723.1:c.101_102delinsA	ENSP00000508084.1:p.Thr34LysfsTer?
ENST00000366683.3:c.236_237delinsA	ENSP00000355644.3:p.Thr79LysfsTer?
ENST00000366684.7:c.236_237delinsA MANE Select	ENSP00000355645.3:p.Thr79LysfsTer?
NM_001100.3:c.236_237delinsA , LRG_429t1:c.236_237delinsA	NP_001091.1:p.Thr79LysfsTer?
NM_001100.4:c.236_237delinsA MANE Select	NP_001091.1:p.Thr79LysfsTer?