Canonical Allele Identifier: CA1226125642
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432089_229432090delinsAG , CM000663.2:g.229432089_229432090delinsAG GRCh38
NC_000001.10:g.229567836_229567837delinsAG , CM000663.1:g.229567836_229567837delinsAG GRCh37
NC_000001.9:g.227634459_227634460delinsAG NCBI36
NG_006672.1:g.7007_7008delinsCT , LRG_429:g.7007_7008delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.712_713delinsCT ENSP00000355644.4:p.Leu238=
ENST00000684723.1:c.577_578delinsCT ENSP00000508084.1:p.Leu193=
ENST00000366683.3:c.480-228_480-227delinsCT ENSP00000355644.3:n.480-228_480-227delinsCT
ENST00000366684.7:c.712_713delinsCT MANE Select ENSP00000355645.3:p.Leu238=
NM_001100.3:c.712_713delinsCT , LRG_429t1:c.712_713delinsCT NP_001091.1:p.Leu238=
NM_001100.4:c.712_713delinsCT MANE Select NP_001091.1:p.Leu238=
Search 100 bp 5'
Search 100 bp 3'