Canonical Allele Identifier: CA1442812
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs770509913
ExAC: 1:229567837 GGGA / G
gnomAD v2: 1-229567837-GGGA-G
gnomAD v3: 1-229432090-GGGA-G
gnomAD v4: 1-229432090-GGGA-G
COSMIC: COSM1745342
MyVariant Identifiers: chr1:g.229567838_229567840del (hg19) chr1:g.229432091_229432093del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432102_229432104del , CM000663.2:g.229432102_229432104del GRCh38
NC_000001.10:g.229567849_229567851del , CM000663.1:g.229567849_229567851del GRCh37
NC_000001.9:g.227634472_227634474del NCBI36
NG_006672.1:g.7004_7006del , LRG_429:g.7004_7006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.709_711del ENSP00000355644.4:p.Ser237del
ENST00000684723.1:c.574_576del ENSP00000508084.1:p.Ser192del
ENST00000366683.3:c.480-231_480-229del ENSP00000355644.3:n.480-231_480-229del
ENST00000366684.7:c.709_711del MANE Select ENSP00000355645.3:p.Ser237del
NM_001100.3:c.709_711del , LRG_429t1:c.709_711del NP_001091.1:p.Ser237del
NM_001100.4:c.709_711del MANE Select NP_001091.1:p.Ser237del
Search 100 bp 5'
Search 100 bp 3'