Canonical Allele Identifier: CA2650926733
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432499-CGGGGGCGGGGGCGGGGGCGGGGGCGGGAGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432504_229432533del , CM000663.2:g.229432504_229432533del GRCh38
NC_000001.10:g.229568251_229568280del , CM000663.1:g.229568251_229568280del GRCh37
NC_000001.9:g.227634874_227634903del NCBI36
NG_006672.1:g.6568_6597del , LRG_429:g.6568_6597del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.454+27_454+56del ENSP00000355644.4:n.454+27_454+56del
ENST00000684723.1:c.319+27_319+56del ENSP00000508084.1:n.319+27_319+56del
ENST00000366683.3:c.454+27_454+56del ENSP00000355644.3:n.454+27_454+56del
ENST00000366684.7:c.454+27_454+56del MANE Select ENSP00000355645.3:n.454+27_454+56del
NM_001100.3:c.454+27_454+56del , LRG_429t1:c.454+27_454+56del NP_001091.1:n.454+27_454+56del
NM_001100.4:c.454+27_454+56del MANE Select NP_001091.1:n.454+27_454+56del
Search 100 bp 5'
Search 100 bp 3'