Canonical Allele Identifier: CA2650926661
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432231-CGCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432235_229432238del , CM000663.2:g.229432235_229432238del GRCh38
NC_000001.10:g.229567982_229567985del , CM000663.1:g.229567982_229567985del GRCh37
NC_000001.9:g.227634605_227634608del NCBI36
NG_006672.1:g.6862_6865del , LRG_429:g.6862_6865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.616+35_616+38del ENSP00000355644.4:n.616+35_616+38del
ENST00000684723.1:c.481+35_481+38del ENSP00000508084.1:n.481+35_481+38del
ENST00000366683.3:c.479+172_479+175del ENSP00000355644.3:n.479+172_479+175del
ENST00000366684.7:c.616+35_616+38del MANE Select ENSP00000355645.3:n.616+35_616+38del
NM_001100.3:c.616+35_616+38del , LRG_429t1:c.616+35_616+38del NP_001091.1:n.616+35_616+38del
NM_001100.4:c.616+35_616+38del MANE Select NP_001091.1:n.616+35_616+38del
Search 100 bp 5'
Search 100 bp 3'