Canonical Allele Identifier: CA645538678

Gene: ACTA1

Linked Data

• COSMIC: COSM5832511

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432154del , CM000663.2:g.229432154del	GRCh38
NC_000001.10:g.229567901del , CM000663.1:g.229567901del	GRCh37
NC_000001.9:g.227634524del	NCBI36
NG_006672.1:g.6943del , LRG_429:g.6943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.648del	ENSP00000355644.4:p.Lys217SerfsTer?
ENST00000684723.1:c.513del	ENSP00000508084.1:p.Lys172SerfsTer?
ENST00000366683.3:c.479+253del	ENSP00000355644.3:n.479+253del
ENST00000366684.7:c.648del MANE Select	ENSP00000355645.3:p.Lys217SerfsTer?
NM_001100.3:c.648del , LRG_429t1:c.648del	NP_001091.1:p.Lys217SerfsTer?
NM_001100.4:c.648del MANE Select	NP_001091.1:p.Lys217SerfsTer?