Canonical Allele Identifier: CA2698259167
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102734837

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431401_229431406del , CM000663.2:g.229431401_229431406del GRCh38
NC_000001.10:g.229567148_229567153del , CM000663.1:g.229567148_229567153del GRCh37
NC_000001.9:g.227633771_227633776del NCBI36
NG_006672.1:g.7691_7696del , LRG_429:g.7691_7696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*93_*98del ENSP00000355644.4:n.*93_*98del
ENST00000684723.1:c.*93_*98del ENSP00000508084.1:n.*93_*98del
ENST00000366683.3:c.*93_*98del ENSP00000355644.3:n.*93_*98del
ENST00000366684.7:c.*93_*98del MANE Select ENSP00000355645.3:n.*93_*98del
NM_001100.3:c.*93_*98del , LRG_429t1:c.*93_*98del NP_001091.1:n.*93_*98del
NM_001100.4:c.*93_*98del MANE Select NP_001091.1:n.*93_*98del