Canonical Allele Identifier: CA1226125688
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432213_229432218delinsCCCTCA , CM000663.2:g.229432213_229432218delinsCCCTCA GRCh38
NC_000001.10:g.229567960_229567965delinsCCCTCA , CM000663.1:g.229567960_229567965delinsCCCTCA GRCh37
NC_000001.9:g.227634583_227634588delinsCCCTCA NCBI36
NG_006672.1:g.6879_6884delinsTGAGGG , LRG_429:g.6879_6884delinsTGAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-33_617-28delinsTGAGGG ENSP00000355644.4:n.617-33_617-28delinsTGAGGG
ENST00000684723.1:c.482-33_482-28delinsTGAGGG ENSP00000508084.1:n.482-33_482-28delinsTGAGGG
ENST00000366683.3:c.479+189_479+194delinsTGAGGG ENSP00000355644.3:n.479+189_479+194delinsTGAGGG
ENST00000366684.7:c.617-33_617-28delinsTGAGGG MANE Select ENSP00000355645.3:n.617-33_617-28delinsTGAGGG
NM_001100.3:c.617-33_617-28delinsTGAGGG , LRG_429t1:c.617-33_617-28delinsTGAGGG NP_001091.1:n.617-33_617-28delinsTGAGGG
NM_001100.4:c.617-33_617-28delinsTGAGGG MANE Select NP_001091.1:n.617-33_617-28delinsTGAGGG
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