Canonical Allele Identifier: CA529915256
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662552
ClinVar RCV Id: RCV000820216
dbSNP Id: rs1211561143
gnomAD v2: 1-229567836-AG-A
gnomAD v3: 1-229432089-AG-A
gnomAD v4: 1-229432089-AG-A
MyVariant Identifiers: chr1:g.229567837del (hg19) chr1:g.229432090del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432092del , CM000663.2:g.229432092del GRCh38
NC_000001.10:g.229567839del , CM000663.1:g.229567839del GRCh37
NC_000001.9:g.227634462del NCBI36
NG_006672.1:g.7007del , LRG_429:g.7007del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.712del ENSP00000355644.4:p.Leu238TrpfsTer?
ENST00000684723.1:c.577del ENSP00000508084.1:p.Leu193TrpfsTer?
ENST00000366683.3:c.480-228del ENSP00000355644.3:n.480-228del
ENST00000366684.7:c.712del MANE Select ENSP00000355645.3:p.Leu238TrpfsTer?
NM_001100.3:c.712del , LRG_429t1:c.712del NP_001091.1:p.Leu238TrpfsTer?
NM_001100.4:c.712del MANE Select NP_001091.1:p.Leu238TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'