Canonical Allele Identifier: CA2650926725
Gene: ACTA1 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432503_229432526del , CM000663.2:g.229432503_229432526del GRCh38
NC_000001.10:g.229568250_229568273del , CM000663.1:g.229568250_229568273del GRCh37
NC_000001.9:g.227634873_227634896del NCBI36
NG_006672.1:g.6577_6600del , LRG_429:g.6577_6600del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.454+36_454+59del ENSP00000355644.4:n.454+36_454+59del
ENST00000684723.1:c.319+36_319+59del ENSP00000508084.1:n.319+36_319+59del
ENST00000366683.3:c.454+36_454+59del ENSP00000355644.3:n.454+36_454+59del
ENST00000366684.7:c.454+36_454+59del MANE Select ENSP00000355645.3:n.454+36_454+59del
NM_001100.3:c.454+36_454+59del , LRG_429t1:c.454+36_454+59del NP_001091.1:n.454+36_454+59del
NM_001100.4:c.454+36_454+59del MANE Select NP_001091.1:n.454+36_454+59del
Search 100 bp 5'
Search 100 bp 3'