Canonical Allele Identifier: CA2650926597
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431784-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431787del , CM000663.2:g.229431787del GRCh38
NC_000001.10:g.229567534del , CM000663.1:g.229567534del GRCh37
NC_000001.9:g.227634157del NCBI36
NG_006672.1:g.7312del , LRG_429:g.7312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.926del ENSP00000355644.4:p.Pro309LeufsTer19
ENST00000684723.1:c.791del ENSP00000508084.1:p.Pro264LeufsTer19
ENST00000366683.3:c.557del ENSP00000355644.3:p.Pro186LeufsTer19
ENST00000366684.7:c.926del MANE Select ENSP00000355645.3:p.Pro309LeufsTer19
NM_001100.3:c.926del , LRG_429t1:c.926del NP_001091.1:p.Pro309LeufsTer19
NM_001100.4:c.926del MANE Select NP_001091.1:p.Pro309LeufsTer19
Search 100 bp 5'
Search 100 bp 3'