Canonical Allele Identifier: CA2810629111

Gene: ACTG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511287_81511288del , CM000679.2:g.81511287_81511288del	GRCh38
NC_000017.10:g.79478313_79478314del , CM000679.1:g.79478313_79478314del	GRCh37
NC_000017.9:g.77092908_77092909del	NCBI36
NG_011433.1:g.6514_6515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.702_703del	ENSP00000466346.2:p.Leu236GlyfsTer17
ENST00000571691.6:c.630_631del	ENSP00000461407.2:p.Leu212GlyfsTer17
ENST00000571721.6:c.702_703del	ENSP00000460660.2:p.Leu236GlyfsTer17
ENST00000572105.7:c.*146_*147del	ENSP00000462823.1:n.*146_*147del
ENST00000573283.7:c.702_703del MANE Select	ENSP00000458435.1:p.Leu236GlyfsTer17
ENST00000574671.6:n.1102_1103del
ENST00000575659.6:c.702_703del	ENSP00000459119.2:p.Leu236GlyfsTer17
ENST00000575994.6:c.702_703del	ENSP00000460464.2:p.Leu236GlyfsTer17
ENST00000576214.3:n.1003_1004del
ENST00000576544.6:c.702_703del	ENSP00000461672.1:p.Leu236GlyfsTer17
ENST00000615544.5:c.702_703del	ENSP00000477968.1:p.Leu236GlyfsTer17
ENST00000644774.2:c.675_676del	ENSP00000493648.2:p.Leu227GlyfsTer17
ENST00000679410.1:n.826_827del
ENST00000679480.1:c.702_703del	ENSP00000506201.1:p.Leu236GlyfsTer17
ENST00000679535.1:n.1003_1004del
ENST00000679778.1:c.702_703del	ENSP00000505235.1:p.Leu236GlyfsTer17
ENST00000680227.1:c.702_703del	ENSP00000506253.1:p.Leu236GlyfsTer17
ENST00000680727.1:c.702_703del	ENSP00000505193.1:p.Leu236GlyfsTer17
ENST00000681052.1:c.702_703del	ENSP00000505060.1:p.Leu236GlyfsTer17
ENST00000681092.1:c.*506_*507del	ENSP00000506720.1:n.*506_*507del
ENST00000681842.1:c.702_703del	ENSP00000506126.1:p.Leu236GlyfsTer17
ENST00000331925.6:c.702_703del	ENSP00000331514.2:p.Leu236GlyfsTer17
ENST00000571691.5:c.675_676del	ENSP00000461407.1:p.Leu227GlyfsTer?
ENST00000572105.6:c.*146_*147del	ENSP00000462823.1:n.*146_*147del
ENST00000573283.5:c.702_703del	ENSP00000458435.1:p.Leu236GlyfsTer17
ENST00000574671.5:n.561_562del
ENST00000575087.5:c.702_703del	ENSP00000459124.1:p.Leu236GlyfsTer17
ENST00000575842.5:c.702_703del	ENSP00000458162.1:p.Leu236GlyfsTer17
ENST00000576209.5:n.587_588del
ENST00000576214.2:n.900_901del
ENST00000576544.5:c.702_703del	ENSP00000461672.1:p.Leu236GlyfsTer17
ENST00000576917.5:n.755_756del
ENST00000615544.4:c.702_703del	ENSP00000477968.1:p.Leu236GlyfsTer17
NM_001199954.1:c.702_703del	NP_001186883.1:p.Leu236GlyfsTer17
NM_001614.3:c.702_703del	NP_001605.1:p.Leu236GlyfsTer17
NR_037688.1:n.841_842del
NM_001199954.2:c.702_703del	NP_001186883.1:p.Leu236GlyfsTer17
NM_001614.4:c.702_703del	NP_001605.1:p.Leu236GlyfsTer17
NR_037688.2:n.774_775del
NM_001614.5:c.702_703del MANE Select	NP_001605.1:p.Leu236GlyfsTer17
NR_037688.3:n.774_775del
NM_001199954.3:c.702_703del	NP_001186883.1:p.Leu236GlyfsTer17