Canonical Allele Identifier: CA2810629319

Gene: ACTG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511614_81511615insATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGC , CM000679.2:g.81511614_81511615insATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGC	GRCh38
NC_000017.10:g.79478640_79478641insATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGC , CM000679.1:g.79478640_79478641insATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGC	GRCh37
NC_000017.9:g.77093235_77093236insATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGC	NCBI36
NG_011433.1:g.6187_6188insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000466346.2:p.Thr126AlafsTer?
ENST00000571691.6:c.340-37_340-36insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000461407.2:n.340-37_340-36insGCTACAGCTTCACCACCACGGCCGA...
ENST00000571721.6:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000460660.2:p.Thr126AlafsTer?
ENST00000572105.7:c.416_417insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000462823.1:p.Pro140LeufsTer?
ENST00000573283.7:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT MANE Select	ENSP00000458435.1:p.Thr126AlafsTer?
ENST00000574671.6:n.775_776insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000575659.6:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000459119.2:p.Thr126AlafsTer?
ENST00000575994.6:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000460464.2:p.Thr126AlafsTer?
ENST00000576214.3:n.676_677insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000576544.6:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000461672.1:p.Thr126AlafsTer?
ENST00000615544.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000477968.1:p.Thr126AlafsTer?
ENST00000644774.2:c.348_349insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000493648.2:p.Thr117AlafsTer?
ENST00000679410.1:n.499_500insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000679480.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000506201.1:p.Thr126AlafsTer?
ENST00000679535.1:n.676_677insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000679778.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000505235.1:p.Thr126AlafsTer?
ENST00000680227.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000506253.1:p.Thr126AlafsTer?
ENST00000680727.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000505193.1:p.Thr126AlafsTer?
ENST00000681052.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000505060.1:p.Thr126AlafsTer?
ENST00000681092.1:c.*179_*180insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000506720.1:n.*179_*180insGCTACAGCTTCACCACCACGGCCGAGCGG...
ENST00000681842.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000506126.1:p.Thr126AlafsTer?
ENST00000331925.6:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000331514.2:p.Thr126AlafsTer?
ENST00000570382.1:c.340-37_340-36insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000466346.1:n.340-37_340-36insGCTACAGCTTCACCACCACGGCCGA...
ENST00000571691.5:c.348_349insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000461407.1:p.Thr117AlafsTer?
ENST00000571721.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000460660.1:p.Thr126AlafsTer?
ENST00000572105.6:c.416_417insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000462823.1:p.Pro140LeufsTer?
ENST00000573283.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000458435.1:p.Thr126AlafsTer?
ENST00000574671.5:n.234_235insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000575087.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000459124.1:p.Thr126AlafsTer?
ENST00000575659.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000459119.1:p.Thr126AlafsTer?
ENST00000575842.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000458162.1:p.Thr126AlafsTer?
ENST00000575994.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000460464.1:p.Thr126AlafsTer?
ENST00000576209.5:n.260_261insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000576214.2:n.573_574insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000576544.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000461672.1:p.Thr126AlafsTer?
ENST00000576917.5:n.428_429insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
ENST00000615544.4:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	ENSP00000477968.1:p.Thr126AlafsTer?
NM_001199954.1:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	NP_001186883.1:p.Thr126AlafsTer?
NM_001614.3:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	NP_001605.1:p.Thr126AlafsTer?
NR_037688.1:n.514_515insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
NM_001199954.2:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	NP_001186883.1:p.Thr126AlafsTer?
NM_001614.4:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	NP_001605.1:p.Thr126AlafsTer?
NR_037688.2:n.447_448insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
NM_001614.5:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT MANE Select	NP_001605.1:p.Thr126AlafsTer?
NR_037688.3:n.447_448insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT
NM_001199954.3:c.375_376insGCTACAGCTTCACCACCACGGCCGAGCGGGAAAT	NP_001186883.1:p.Thr126AlafsTer?