Canonical Allele Identifier: CA529915300
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1328792809
gnomAD v2: 1-229568208-TG-T
gnomAD v3: 1-229432461-TG-T
gnomAD v4: 1-229432461-TG-T
MyVariant Identifiers: chr1:g.229568209del (hg19) chr1:g.229432462del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432466del , CM000663.2:g.229432466del GRCh38
NC_000001.10:g.229568213del , CM000663.1:g.229568213del GRCh37
NC_000001.9:g.227634836del NCBI36
NG_006672.1:g.6635del , LRG_429:g.6635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.455-31del ENSP00000355644.4:n.455-31del
ENST00000684723.1:c.320-31del ENSP00000508084.1:n.320-31del
ENST00000366683.3:c.455-31del ENSP00000355644.3:n.455-31del
ENST00000366684.7:c.455-31del MANE Select ENSP00000355645.3:n.455-31del
NM_001100.3:c.455-31del , LRG_429t1:c.455-31del NP_001091.1:n.455-31del
NM_001100.4:c.455-31del MANE Select NP_001091.1:n.455-31del
Search 100 bp 5'
Search 100 bp 3'