Canonical Allele Identifier: CA2650926631
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431969-C-CGGGGCG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431970_229431975dup , CM000663.2:g.229431970_229431975dup GRCh38
NC_000001.10:g.229567717_229567722dup , CM000663.1:g.229567717_229567722dup GRCh37
NC_000001.9:g.227634340_227634345dup NCBI36
NG_006672.1:g.7122_7127dup , LRG_429:g.7122_7127dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.808+19_808+24dup ENSP00000355644.4:n.808+19_808+24dup
ENST00000684723.1:c.673+19_673+24dup ENSP00000508084.1:n.673+19_673+24dup
ENST00000366683.3:c.480-113_480-108dup ENSP00000355644.3:n.480-113_480-108dup
ENST00000366684.7:c.808+19_808+24dup MANE Select ENSP00000355645.3:n.808+19_808+24dup
NM_001100.3:c.808+19_808+24dup , LRG_429t1:c.808+19_808+24dup NP_001091.1:n.808+19_808+24dup
NM_001100.4:c.808+19_808+24dup MANE Select NP_001091.1:n.808+19_808+24dup
Search 100 bp 5'
Search 100 bp 3'