Canonical Allele Identifier: CA2574151282
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432090-G-GGGA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432102_229432104dup , CM000663.2:g.229432102_229432104dup GRCh38
NC_000001.10:g.229567849_229567851dup , CM000663.1:g.229567849_229567851dup GRCh37
NC_000001.9:g.227634472_227634474dup NCBI36
NG_006672.1:g.7004_7006dup , LRG_429:g.7004_7006dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.709_711dup ENSP00000355644.4:p.Ser237_Leu238insSer
ENST00000684723.1:c.574_576dup ENSP00000508084.1:p.Ser192_Leu193insSer
ENST00000366683.3:c.480-231_480-229dup ENSP00000355644.3:n.480-231_480-229dup
ENST00000366684.7:c.709_711dup MANE Select ENSP00000355645.3:p.Ser237_Leu238insSer
NM_001100.3:c.709_711dup , LRG_429t1:c.709_711dup NP_001091.1:p.Ser237_Leu238insSer
NM_001100.4:c.709_711dup MANE Select NP_001091.1:p.Ser237_Leu238insSer
Search 100 bp 5'
Search 100 bp 3'