Canonical Allele Identifier: CA2586968416
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432570_229432575dup , CM000663.2:g.229432570_229432575dup GRCh38
NC_000001.10:g.229568317_229568322dup , CM000663.1:g.229568317_229568322dup GRCh37
NC_000001.9:g.227634940_227634945dup NCBI36
NG_006672.1:g.6524_6529dup , LRG_429:g.6524_6529dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.437_442dup ENSP00000355644.4:p.Ser147_Gly148insAlaSer
ENST00000684723.1:c.302_307dup ENSP00000508084.1:p.Ser102_Gly103insAlaSer
ENST00000366683.3:c.437_442dup ENSP00000355644.3:p.Ser147_Gly148insAlaSer
ENST00000366684.7:c.437_442dup MANE Select ENSP00000355645.3:p.Ser147_Gly148insAlaSer
NM_001100.3:c.437_442dup , LRG_429t1:c.437_442dup NP_001091.1:p.Ser147_Gly148insAlaSer
NM_001100.4:c.437_442dup MANE Select NP_001091.1:p.Ser147_Gly148insAlaSer
Search 100 bp 5'
Search 100 bp 3'