Canonical Allele Identifier: CA1442821
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs773829895
ExAC: 1:229567939 AG / A
gnomAD v2: 1-229567939-AG-A
gnomAD v4: 1-229432192-AG-A
MyVariant Identifiers: chr1:g.229567940del (hg19) chr1:g.229432193del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432195del , CM000663.2:g.229432195del GRCh38
NC_000001.10:g.229567942del , CM000663.1:g.229567942del GRCh37
NC_000001.9:g.227634565del NCBI36
NG_006672.1:g.6904del , LRG_429:g.6904del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-8del ENSP00000355644.4:n.617-8del
ENST00000684723.1:c.482-8del ENSP00000508084.1:n.482-8del
ENST00000366683.3:c.479+214del ENSP00000355644.3:n.479+214del
ENST00000366684.7:c.617-8del MANE Select ENSP00000355645.3:n.617-8del
NM_001100.3:c.617-8del , LRG_429t1:c.617-8del NP_001091.1:n.617-8del
NM_001100.4:c.617-8del MANE Select NP_001091.1:n.617-8del
Search 100 bp 5'
Search 100 bp 3'