Canonical Allele Identifier: CA8836009

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 1394755
• ClinVar RCV Id: RCV001898615
• dbSNP Id: rs782541695
• ExAC: 17:79478309 AGAG / A
• gnomAD v2: 17-79478309-AGAG-A
• gnomAD v4: 17-81511283-AGAG-A
• COSMIC: COSM1387305
• MyVariant Identifiers: chr17:g.79478310_79478312del (hg19) ; chr17:g.81511284_81511286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511284_81511286del , CM000679.2:g.81511284_81511286del	GRCh38
NC_000017.10:g.79478310_79478312del , CM000679.1:g.79478310_79478312del	GRCh37
NC_000017.9:g.77092905_77092907del	NCBI36
NG_011433.1:g.6516_6518del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.704_706del	ENSP00000466346.2:p.Ser235del
ENST00000571691.6:c.632_634del	ENSP00000461407.2:p.Ser211del
ENST00000571721.6:c.704_706del	ENSP00000460660.2:p.Ser235del
ENST00000572105.7:c.*148_*150del	ENSP00000462823.1:n.*148_*150del
ENST00000573283.7:c.704_706del MANE Select	ENSP00000458435.1:p.Ser235del
ENST00000574671.6:n.1104_1106del
ENST00000575659.6:c.704_706del	ENSP00000459119.2:p.Ser235del
ENST00000575994.6:c.704_706del	ENSP00000460464.2:p.Ser235del
ENST00000576214.3:n.1005_1007del
ENST00000576544.6:c.704_706del	ENSP00000461672.1:p.Ser235del
ENST00000615544.5:c.704_706del	ENSP00000477968.1:p.Ser235del
ENST00000644774.2:c.677_679del	ENSP00000493648.2:p.Ser226del
ENST00000679410.1:n.828_830del
ENST00000679480.1:c.704_706del	ENSP00000506201.1:p.Ser235del
ENST00000679535.1:n.1005_1007del
ENST00000679778.1:c.704_706del	ENSP00000505235.1:p.Ser235del
ENST00000680227.1:c.704_706del	ENSP00000506253.1:p.Ser235del
ENST00000680727.1:c.704_706del	ENSP00000505193.1:p.Ser235del
ENST00000681052.1:c.704_706del	ENSP00000505060.1:p.Ser235del
ENST00000681092.1:c.*508_*510del	ENSP00000506720.1:n.*508_*510del
ENST00000681842.1:c.704_706del	ENSP00000506126.1:p.Ser235del
ENST00000331925.6:c.704_706del	ENSP00000331514.2:p.Ser235del
ENST00000571691.5:c.677_679del	ENSP00000461407.1:p.Ser226del
ENST00000572105.6:c.*148_*150del	ENSP00000462823.1:n.*148_*150del
ENST00000573283.5:c.704_706del	ENSP00000458435.1:p.Ser235del
ENST00000574671.5:n.563_565del
ENST00000575087.5:c.704_706del	ENSP00000459124.1:p.Ser235del
ENST00000575842.5:c.704_706del	ENSP00000458162.1:p.Ser235del
ENST00000576209.5:n.589_591del
ENST00000576214.2:n.902_904del
ENST00000576544.5:c.704_706del	ENSP00000461672.1:p.Ser235del
ENST00000576917.5:n.757_759del
ENST00000615544.4:c.704_706del	ENSP00000477968.1:p.Ser235del
NM_001199954.1:c.704_706del	NP_001186883.1:p.Ser235del
NM_001614.3:c.704_706del	NP_001605.1:p.Ser235del
NR_037688.1:n.843_845del
NM_001199954.2:c.704_706del	NP_001186883.1:p.Ser235del
NM_001614.4:c.704_706del	NP_001605.1:p.Ser235del
NR_037688.2:n.776_778del
NM_001614.5:c.704_706del MANE Select	NP_001605.1:p.Ser235del
NR_037688.3:n.776_778del
NM_001199954.3:c.704_706del	NP_001186883.1:p.Ser235del