Canonical Allele Identifier: CA1442786
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs772690824
ExAC: 1:229567692 CG / C
gnomAD v2: 1-229567692-CG-C
gnomAD v3: 1-229431945-CG-C
gnomAD v4: 1-229431945-CG-C
MyVariant Identifiers: chr1:g.229567693del (hg19) chr1:g.229431946del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431950del , CM000663.2:g.229431950del GRCh38
NC_000001.10:g.229567697del , CM000663.1:g.229567697del GRCh37
NC_000001.9:g.227634320del NCBI36
NG_006672.1:g.7151del , LRG_429:g.7151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-44del ENSP00000355644.4:n.809-44del
ENST00000684723.1:c.674-44del ENSP00000508084.1:n.674-44del
ENST00000366683.3:c.480-84del ENSP00000355644.3:n.480-84del
ENST00000366684.7:c.809-44del MANE Select ENSP00000355645.3:n.809-44del
NM_001100.3:c.809-44del , LRG_429t1:c.809-44del NP_001091.1:n.809-44del
NM_001100.4:c.809-44del MANE Select NP_001091.1:n.809-44del
Search 100 bp 5'
Search 100 bp 3'