Canonical Allele Identifier: CA2576423406

Gene: ACTG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511211_81511212dup , CM000679.2:g.81511211_81511212dup	GRCh38
NC_000017.10:g.79478237_79478238dup , CM000679.1:g.79478237_79478238dup	GRCh37
NC_000017.9:g.77092832_77092833dup	NCBI36
NG_011433.1:g.6592_6593dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.780_781dup	ENSP00000466346.2:p.Leu261ArgfsTer24
ENST00000571691.6:c.708_709dup	ENSP00000461407.2:p.Leu237ArgfsTer24
ENST00000571721.6:c.780_781dup	ENSP00000460660.2:p.Leu261ArgfsTer24
ENST00000572105.7:c.*224_*225dup	ENSP00000462823.1:n.*224_*225dup
ENST00000573283.7:c.780_781dup MANE Select	ENSP00000458435.1:p.Leu261ArgfsTer24
ENST00000574671.6:n.1180_1181dup
ENST00000575659.6:c.780_781dup	ENSP00000459119.2:p.Leu261ArgfsTer24
ENST00000575994.6:c.780_781dup	ENSP00000460464.2:p.Leu261ArgfsTer24
ENST00000576214.3:n.1081_1082dup
ENST00000576544.6:c.780_781dup	ENSP00000461672.1:p.Leu261ArgfsTer24
ENST00000615544.5:c.780_781dup	ENSP00000477968.1:p.Leu261ArgfsTer24
ENST00000644774.2:c.753_754dup	ENSP00000493648.2:p.Leu252ArgfsTer24
ENST00000679410.1:n.904_905dup
ENST00000679480.1:c.780_781dup	ENSP00000506201.1:p.Leu261ArgfsTer24
ENST00000679535.1:n.1081_1082dup
ENST00000679778.1:c.780_781dup	ENSP00000505235.1:p.Leu261ArgfsTer24
ENST00000680227.1:c.780_781dup	ENSP00000506253.1:p.Leu261ArgfsTer24
ENST00000680727.1:c.780_781dup	ENSP00000505193.1:p.Leu261ArgfsTer24
ENST00000681052.1:c.780_781dup	ENSP00000505060.1:p.Leu261ArgfsTer24
ENST00000681092.1:c.*584_*585dup	ENSP00000506720.1:n.*584_*585dup
ENST00000681842.1:c.780_781dup	ENSP00000506126.1:p.Leu261ArgfsTer24
ENST00000331925.6:c.780_781dup	ENSP00000331514.2:p.Leu261ArgfsTer24
ENST00000572105.6:c.*224_*225dup	ENSP00000462823.1:n.*224_*225dup
ENST00000573283.5:c.780_781dup	ENSP00000458435.1:p.Leu261ArgfsTer24
ENST00000574671.5:n.639_640dup
ENST00000575087.5:c.780_781dup	ENSP00000459124.1:p.Leu261ArgfsTer24
ENST00000575842.5:c.780_781dup	ENSP00000458162.1:p.Leu261ArgfsTer24
ENST00000576209.5:n.665_666dup
ENST00000576214.2:n.978_979dup
ENST00000576544.5:c.780_781dup	ENSP00000461672.1:p.Leu261ArgfsTer24
ENST00000576917.5:n.833_834dup
ENST00000615544.4:c.780_781dup	ENSP00000477968.1:p.Leu261ArgfsTer24
NM_001199954.1:c.780_781dup	NP_001186883.1:p.Leu261ArgfsTer24
NM_001614.3:c.780_781dup	NP_001605.1:p.Leu261ArgfsTer24
NR_037688.1:n.919_920dup
NM_001199954.2:c.780_781dup	NP_001186883.1:p.Leu261ArgfsTer24
NM_001614.4:c.780_781dup	NP_001605.1:p.Leu261ArgfsTer24
NR_037688.2:n.852_853dup
NM_001614.5:c.780_781dup MANE Select	NP_001605.1:p.Leu261ArgfsTer24
NR_037688.3:n.852_853dup
NM_001199954.3:c.780_781dup	NP_001186883.1:p.Leu261ArgfsTer24