Canonical Allele Identifier: CA8836190

Gene: ACTG1

Linked Data

• dbSNP Id: rs782095250
• ExAC: 17:79478822 AAC / A
• gnomAD v2: 17-79478822-AAC-A
• gnomAD v3: 17-81511796-AAC-A
• gnomAD v4: 17-81511796-AAC-A
• MyVariant Identifiers: chr17:g.79478823_79478824del (hg19) ; chr17:g.81511797_81511798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511798_81511799del , CM000679.2:g.81511798_81511799del	GRCh38
NC_000017.10:g.79478824_79478825del , CM000679.1:g.79478824_79478825del	GRCh37
NC_000017.9:g.77093419_77093420del	NCBI36
NG_011433.1:g.6004_6005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.363+105_363+106del	ENSP00000466346.2:n.363+105_363+106del
ENST00000571691.6:c.339+129_339+130del	ENSP00000461407.2:n.339+129_339+130del
ENST00000571721.6:c.363+105_363+106del	ENSP00000460660.2:n.363+105_363+106del
ENST00000572105.7:c.369_370del	ENSP00000462823.1:p.Phe124ProfsTer8
ENST00000573283.7:c.363+105_363+106del MANE Select	ENSP00000458435.1:n.363+105_363+106del
ENST00000574671.6:n.592_593del
ENST00000575659.6:c.363+105_363+106del	ENSP00000459119.2:n.363+105_363+106del
ENST00000575994.6:c.363+105_363+106del	ENSP00000460464.2:n.363+105_363+106del
ENST00000576214.3:n.493_494del
ENST00000576544.6:c.363+105_363+106del	ENSP00000461672.1:n.363+105_363+106del
ENST00000615544.5:c.363+105_363+106del	ENSP00000477968.1:n.363+105_363+106del
ENST00000644774.2:c.336+105_336+106del	ENSP00000493648.2:n.336+105_336+106del
ENST00000679410.1:n.487+105_487+106del
ENST00000679480.1:c.363+105_363+106del	ENSP00000506201.1:n.363+105_363+106del
ENST00000679535.1:n.493_494del
ENST00000679778.1:c.363+105_363+106del	ENSP00000505235.1:n.363+105_363+106del
ENST00000680227.1:c.363+105_363+106del	ENSP00000506253.1:n.363+105_363+106del
ENST00000680727.1:c.363+105_363+106del	ENSP00000505193.1:n.363+105_363+106del
ENST00000681052.1:c.363+105_363+106del	ENSP00000505060.1:n.363+105_363+106del
ENST00000681092.1:c.*167+105_*167+106del	ENSP00000506720.1:n.*167+105_*167+106del
ENST00000681842.1:c.363+105_363+106del	ENSP00000506126.1:n.363+105_363+106del
ENST00000331925.6:c.363+105_363+106del	ENSP00000331514.2:n.363+105_363+106del
ENST00000570382.1:c.339+129_339+130del	ENSP00000466346.1:n.339+129_339+130del
ENST00000571691.5:c.336+105_336+106del	ENSP00000461407.1:n.336+105_336+106del
ENST00000571721.5:c.363+105_363+106del	ENSP00000460660.1:n.363+105_363+106del
ENST00000572105.6:c.369_370del	ENSP00000462823.1:p.Phe124ProfsTer8
ENST00000573283.5:c.363+105_363+106del	ENSP00000458435.1:n.363+105_363+106del
ENST00000574671.5:n.51_52del
ENST00000575087.5:c.363+105_363+106del	ENSP00000459124.1:n.363+105_363+106del
ENST00000575659.5:c.363+105_363+106del	ENSP00000459119.1:n.363+105_363+106del
ENST00000575842.5:c.363+105_363+106del	ENSP00000458162.1:n.363+105_363+106del
ENST00000575994.5:c.363+105_363+106del	ENSP00000460464.1:n.363+105_363+106del
ENST00000576209.5:n.248+105_248+106del
ENST00000576214.2:n.390_391del
ENST00000576544.5:c.363+105_363+106del	ENSP00000461672.1:n.363+105_363+106del
ENST00000576917.5:n.416+105_416+106del
ENST00000615544.4:c.363+105_363+106del	ENSP00000477968.1:n.363+105_363+106del
NM_001199954.1:c.363+105_363+106del	NP_001186883.1:n.363+105_363+106del
NM_001614.3:c.363+105_363+106del	NP_001605.1:n.363+105_363+106del
NR_037688.1:n.502+105_502+106del
NM_001199954.2:c.363+105_363+106del	NP_001186883.1:n.363+105_363+106del
NM_001614.4:c.363+105_363+106del	NP_001605.1:n.363+105_363+106del
NR_037688.2:n.435+105_435+106del
NM_001614.5:c.363+105_363+106del MANE Select	NP_001605.1:n.363+105_363+106del
NR_037688.3:n.435+105_435+106del
NM_001199954.3:c.363+105_363+106del	NP_001186883.1:n.363+105_363+106del