Canonical Allele Identifier: CA2650926723
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432496-C-CGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432498_229432499insGGGGGG , CM000663.2:g.229432498_229432499insGGGGGG GRCh38
NC_000001.10:g.229568245_229568246insGGGGGG , CM000663.1:g.229568245_229568246insGGGGGG GRCh37
NC_000001.9:g.227634868_227634869insGGGGGG NCBI36
NG_006672.1:g.6600_6601insCCCCCC , LRG_429:g.6600_6601insCCCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.454+59_454+60insCCCCCC ENSP00000355644.4:n.454+59_454+60insCCCCC...
ENST00000684723.1:c.319+59_319+60insCCCCCC ENSP00000508084.1:n.319+59_319+60insCCCCC...
ENST00000366683.3:c.454+59_454+60insCCCCCC ENSP00000355644.3:n.454+59_454+60insCCCCC...
ENST00000366684.7:c.454+59_454+60insCCCCCC MANE Select ENSP00000355645.3:n.454+59_454+60insCCCCC...
NM_001100.3:c.454+59_454+60insCCCCCC , LRG_429t1:c.454+59_454+60insCCCCCC NP_001091.1:n.454+59_454+60insCCCCCC
NM_001100.4:c.454+59_454+60insCCCCCC MANE Select NP_001091.1:n.454+59_454+60insCCCCCC
Search 100 bp 5'
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