Canonical Allele Identifier: CA2640434388

Gene: ACTG1

Linked Data

• gnomAD v4: 17-81511024-T-TCAACAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511024_81511025insCAACAAG , CM000679.2:g.81511024_81511025insCAACAAG	GRCh38
NC_000017.10:g.79478050_79478051insCAACAAG , CM000679.1:g.79478050_79478051insCAACAAG	GRCh37
NC_000017.9:g.77092645_77092646insCAACAAG	NCBI36
NG_011433.1:g.6777_6778insCTTGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.886_887insCTTGTTG	ENSP00000466346.2:p.Asn296ThrfsTer3
ENST00000571691.6:c.814_815insCTTGTTG	ENSP00000461407.2:p.Asn272ThrfsTer3
ENST00000571721.6:c.886_887insCTTGTTG	ENSP00000460660.2:p.Asn296ThrfsTer3
ENST00000572105.7:c.*330_*331insCTTGTTG	ENSP00000462823.1:n.*330_*331insCTTGTTG
ENST00000573283.7:c.886_887insCTTGTTG MANE Select	ENSP00000458435.1:p.Asn296ThrfsTer3
ENST00000574671.6:n.1286_1287insCTTGTTG
ENST00000575659.6:c.886_887insCTTGTTG	ENSP00000459119.2:p.Asn296ThrfsTer3
ENST00000575994.6:c.886_887insCTTGTTG	ENSP00000460464.2:p.Asn296ThrfsTer3
ENST00000576214.3:n.1187_1188insCTTGTTG
ENST00000576544.6:c.886_887insCTTGTTG	ENSP00000461672.1:p.Asn296ThrfsTer3
ENST00000615544.5:c.886_887insCTTGTTG	ENSP00000477968.1:p.Asn296ThrfsTer3
ENST00000644774.2:c.859_860insCTTGTTG	ENSP00000493648.2:p.Asn287ThrfsTer3
ENST00000679410.1:n.1089_1090insCTTGTTG
ENST00000679480.1:c.886_887insCTTGTTG	ENSP00000506201.1:p.Asn296ThrfsTer3
ENST00000679535.1:n.1187_1188insCTTGTTG
ENST00000679778.1:c.886_887insCTTGTTG	ENSP00000505235.1:p.Asn296ThrfsTer3
ENST00000680227.1:c.886_887insCTTGTTG	ENSP00000506253.1:p.Asn296ThrfsTer3
ENST00000680727.1:c.886_887insCTTGTTG	ENSP00000505193.1:p.Asn296ThrfsTer3
ENST00000681052.1:c.886_887insCTTGTTG	ENSP00000505060.1:p.Asn296ThrfsTer3
ENST00000681092.1:c.*690_*691insCTTGTTG	ENSP00000506720.1:n.*690_*691insCTTGTTG
ENST00000681842.1:c.886_887insCTTGTTG	ENSP00000506126.1:p.Asn296ThrfsTer3
ENST00000331925.6:c.886_887insCTTGTTG	ENSP00000331514.2:p.Asn296ThrfsTer3
ENST00000572105.6:c.*330_*331insCTTGTTG	ENSP00000462823.1:n.*330_*331insCTTGTTG
ENST00000573283.5:c.886_887insCTTGTTG	ENSP00000458435.1:p.Asn296ThrfsTer3
ENST00000574671.5:n.745_746insCTTGTTG
ENST00000575087.5:c.886_887insCTTGTTG	ENSP00000459124.1:p.Asn296ThrfsTer3
ENST00000575842.5:c.886_887insCTTGTTG	ENSP00000458162.1:p.Asn296ThrfsTer3
ENST00000576209.5:n.771_772insCTTGTTG
ENST00000576544.5:c.886_887insCTTGTTG	ENSP00000461672.1:p.Asn296ThrfsTer3
ENST00000576917.5:n.1018_1019insCTTGTTG
ENST00000615544.4:c.886_887insCTTGTTG	ENSP00000477968.1:p.Asn296ThrfsTer3
NM_001199954.1:c.886_887insCTTGTTG	NP_001186883.1:p.Asn296ThrfsTer3
NM_001614.3:c.886_887insCTTGTTG	NP_001605.1:p.Asn296ThrfsTer3
NR_037688.1:n.1025_1026insCTTGTTG
NM_001199954.2:c.886_887insCTTGTTG	NP_001186883.1:p.Asn296ThrfsTer3
NM_001614.4:c.886_887insCTTGTTG	NP_001605.1:p.Asn296ThrfsTer3
NR_037688.2:n.958_959insCTTGTTG
NM_001614.5:c.886_887insCTTGTTG MANE Select	NP_001605.1:p.Asn296ThrfsTer3
NR_037688.3:n.958_959insCTTGTTG
NM_001199954.3:c.886_887insCTTGTTG	NP_001186883.1:p.Asn296ThrfsTer3