Canonical Allele Identifier: CA2650926744

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432499-C-CGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432504_229432505insGGGGGGG , CM000663.2:g.229432504_229432505insGGGGGGG	GRCh38
NC_000001.10:g.229568251_229568252insGGGGGGG , CM000663.1:g.229568251_229568252insGGGGGGG	GRCh37
NC_000001.9:g.227634874_227634875insGGGGGGG	NCBI36
NG_006672.1:g.6597_6598insCCCCCCC , LRG_429:g.6597_6598insCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.454+56_454+57insCCCCCCC	ENSP00000355644.4:n.454+56_454+57insCCCCCCC
ENST00000684723.1:c.319+56_319+57insCCCCCCC	ENSP00000508084.1:n.319+56_319+57insCCCCCCC
ENST00000366683.3:c.454+56_454+57insCCCCCCC	ENSP00000355644.3:n.454+56_454+57insCCCCCCC
ENST00000366684.7:c.454+56_454+57insCCCCCCC MANE Select	ENSP00000355645.3:n.454+56_454+57insCCCCCCC
NM_001100.3:c.454+56_454+57insCCCCCCC , LRG_429t1:c.454+56_454+57insCCCCCCC	NP_001091.1:n.454+56_454+57insCCCCCCC
NM_001100.4:c.454+56_454+57insCCCCCCC MANE Select	NP_001091.1:n.454+56_454+57insCCCCCCC