Canonical Allele Identifier: CA2519012659
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431909_229431911del , CM000663.2:g.229431909_229431911del GRCh38
NC_000001.10:g.229567656_229567658del , CM000663.1:g.229567656_229567658del GRCh37
NC_000001.9:g.227634279_227634281del NCBI36
NG_006672.1:g.7186_7188del , LRG_429:g.7186_7188del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-9_809-7del ENSP00000355644.4:n.809-9_809-7del
ENST00000684723.1:c.674-9_674-7del ENSP00000508084.1:n.674-9_674-7del
ENST00000366683.3:c.480-49_480-47del ENSP00000355644.3:n.480-49_480-47del
ENST00000366684.7:c.809-9_809-7del MANE Select ENSP00000355645.3:n.809-9_809-7del
NM_001100.3:c.809-9_809-7del , LRG_429t1:c.809-9_809-7del NP_001091.1:n.809-9_809-7del
NM_001100.4:c.809-9_809-7del MANE Select NP_001091.1:n.809-9_809-7del
Search 100 bp 5'
Search 100 bp 3'