Canonical Allele Identifier: CA2650926726

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432496-C-CGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432498_229432499insGGGGGGGG , CM000663.2:g.229432498_229432499insGGGGGGGG	GRCh38
NC_000001.10:g.229568245_229568246insGGGGGGGG , CM000663.1:g.229568245_229568246insGGGGGGGG	GRCh37
NC_000001.9:g.227634868_227634869insGGGGGGGG	NCBI36
NG_006672.1:g.6600_6601insCCCCCCCC , LRG_429:g.6600_6601insCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.454+59_454+60insCCCCCCCC	ENSP00000355644.4:n.454+59_454+60insCCCCCCCC
ENST00000684723.1:c.319+59_319+60insCCCCCCCC	ENSP00000508084.1:n.319+59_319+60insCCCCCCCC
ENST00000366683.3:c.454+59_454+60insCCCCCCCC	ENSP00000355644.3:n.454+59_454+60insCCCCCCCC
ENST00000366684.7:c.454+59_454+60insCCCCCCCC MANE Select	ENSP00000355645.3:n.454+59_454+60insCCCCCCCC
NM_001100.3:c.454+59_454+60insCCCCCCCC , LRG_429t1:c.454+59_454+60insCCCCCCCC	NP_001091.1:n.454+59_454+60insCCCCCCCC
NM_001100.4:c.454+59_454+60insCCCCCCCC MANE Select	NP_001091.1:n.454+59_454+60insCCCCCCCC