Canonical Allele Identifier: CA2698259239
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102734954

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431494del , CM000663.2:g.229431494del GRCh38
NC_000001.10:g.229567241del , CM000663.1:g.229567241del GRCh37
NC_000001.9:g.227633864del NCBI36
NG_006672.1:g.7603del , LRG_429:g.7603del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.*5del ENSP00000355644.4:n.*5del
ENST00000684723.1:c.*5del ENSP00000508084.1:n.*5del
ENST00000366683.3:c.*5del ENSP00000355644.3:n.*5del
ENST00000366684.7:c.*5del MANE Select ENSP00000355645.3:n.*5del
NM_001100.3:c.*5del , LRG_429t1:c.*5del NP_001091.1:n.*5del
NM_001100.4:c.*5del MANE Select NP_001091.1:n.*5del