Canonical Allele Identifier: CA2698259238
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102734950
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431488_229431491del , CM000663.2:g.229431488_229431491del GRCh38
NC_000001.10:g.229567235_229567238del , CM000663.1:g.229567235_229567238del GRCh37
NC_000001.9:g.227633858_227633861del NCBI36
NG_006672.1:g.7607_7610del , LRG_429:g.7607_7610del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.*9_*12del ENSP00000355644.4:n.*9_*12del
ENST00000684723.1:c.*9_*12del ENSP00000508084.1:n.*9_*12del
ENST00000366683.3:c.*9_*12del ENSP00000355644.3:n.*9_*12del
ENST00000366684.7:c.*9_*12del MANE Select ENSP00000355645.3:n.*9_*12del
NM_001100.3:c.*9_*12del , LRG_429t1:c.*9_*12del NP_001091.1:n.*9_*12del
NM_001100.4:c.*9_*12del MANE Select NP_001091.1:n.*9_*12del
Search 100 bp 5'
Search 100 bp 3'