Canonical Allele Identifier: CA2518117737
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431921_229431922insATCA , CM000663.2:g.229431921_229431922insATCA GRCh38
NC_000001.10:g.229567668_229567669insATCA , CM000663.1:g.229567668_229567669insATCA GRCh37
NC_000001.9:g.227634291_227634292insATCA NCBI36
NG_006672.1:g.7176_7177insGATT , LRG_429:g.7176_7177insGATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-19_809-18insGATT ENSP00000355644.4:n.809-19_809-18insGATT
ENST00000684723.1:c.674-19_674-18insGATT ENSP00000508084.1:n.674-19_674-18insGATT
ENST00000366683.3:c.480-59_480-58insGATT ENSP00000355644.3:n.480-59_480-58insGATT
ENST00000366684.7:c.809-19_809-18insGATT MANE Select ENSP00000355645.3:n.809-19_809-18insGATT
NM_001100.3:c.809-19_809-18insGATT , LRG_429t1:c.809-19_809-18insGATT NP_001091.1:n.809-19_809-18insGATT
NM_001100.4:c.809-19_809-18insGATT MANE Select NP_001091.1:n.809-19_809-18insGATT