Canonical Allele Identifier: CA8835932

Gene: ACTG1

Linked Data

• dbSNP Id: rs782135081
• ExAC: 17:79478122 C / CAATACATAAATT
• MyVariant Identifiers: chr17:g.79478122_79478123insAATACATAAATT (hg19) ; chr17:g.81511096_81511097insAATACATAAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511098_81511099insTACATAAATTAA , CM000679.2:g.81511098_81511099insTACATAAATTAA	GRCh38
NC_000017.10:g.79478124_79478125insTACATAAATTAA , CM000679.1:g.79478124_79478125insTACATAAATTAA	GRCh37
NC_000017.9:g.77092719_77092720insTACATAAATTAA	NCBI36
NG_011433.1:g.6705_6706insAATTTATGTATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.814_815insAATTTATGTATT	ENSP00000466346.2:p.Cys272Ter
ENST00000571691.6:c.742_743insAATTTATGTATT	ENSP00000461407.2:p.Cys248Ter
ENST00000571721.6:c.814_815insAATTTATGTATT	ENSP00000460660.2:p.Cys272Ter
ENST00000572105.7:c.*258_*259insAATTTATGTATT	ENSP00000462823.1:n.*258_*259insAATTTATGT...
ENST00000573283.7:c.814_815insAATTTATGTATT MANE Select	ENSP00000458435.1:p.Cys272Ter
ENST00000574671.6:n.1214_1215insAATTTATGTATT
ENST00000575659.6:c.814_815insAATTTATGTATT	ENSP00000459119.2:p.Cys272Ter
ENST00000575994.6:c.814_815insAATTTATGTATT	ENSP00000460464.2:p.Cys272Ter
ENST00000576214.3:n.1115_1116insAATTTATGTATT
ENST00000576544.6:c.814_815insAATTTATGTATT	ENSP00000461672.1:p.Cys272Ter
ENST00000615544.5:c.814_815insAATTTATGTATT	ENSP00000477968.1:p.Cys272Ter
ENST00000644774.2:c.787_788insAATTTATGTATT	ENSP00000493648.2:p.Cys263Ter
ENST00000679410.1:n.1017_1018insAATTTATGTATT
ENST00000679480.1:c.814_815insAATTTATGTATT	ENSP00000506201.1:p.Cys272Ter
ENST00000679535.1:n.1115_1116insAATTTATGTATT
ENST00000679778.1:c.814_815insAATTTATGTATT	ENSP00000505235.1:p.Cys272Ter
ENST00000680227.1:c.814_815insAATTTATGTATT	ENSP00000506253.1:p.Cys272Ter
ENST00000680727.1:c.814_815insAATTTATGTATT	ENSP00000505193.1:p.Cys272Ter
ENST00000681052.1:c.814_815insAATTTATGTATT	ENSP00000505060.1:p.Cys272Ter
ENST00000681092.1:c.*618_*619insAATTTATGTATT	ENSP00000506720.1:n.*618_*619insAATTTATGT...
ENST00000681842.1:c.814_815insAATTTATGTATT	ENSP00000506126.1:p.Cys272Ter
ENST00000331925.6:c.814_815insAATTTATGTATT	ENSP00000331514.2:p.Cys272Ter
ENST00000572105.6:c.*258_*259insAATTTATGTATT	ENSP00000462823.1:n.*258_*259insAATTTATGT...
ENST00000573283.5:c.814_815insAATTTATGTATT	ENSP00000458435.1:p.Cys272Ter
ENST00000574671.5:n.673_674insAATTTATGTATT
ENST00000575087.5:c.814_815insAATTTATGTATT	ENSP00000459124.1:p.Cys272Ter
ENST00000575842.5:c.814_815insAATTTATGTATT	ENSP00000458162.1:p.Cys272Ter
ENST00000576209.5:n.699_700insAATTTATGTATT
ENST00000576214.2:n.1012_1013insAATTTATGTATT
ENST00000576544.5:c.814_815insAATTTATGTATT	ENSP00000461672.1:p.Cys272Ter
ENST00000576917.5:n.946_947insAATTTATGTATT
ENST00000615544.4:c.814_815insAATTTATGTATT	ENSP00000477968.1:p.Cys272Ter
NM_001199954.1:c.814_815insAATTTATGTATT	NP_001186883.1:p.Cys272Ter
NM_001614.3:c.814_815insAATTTATGTATT	NP_001605.1:p.Cys272Ter
NR_037688.1:n.953_954insAATTTATGTATT
NM_001199954.2:c.814_815insAATTTATGTATT	NP_001186883.1:p.Cys272Ter
NM_001614.4:c.814_815insAATTTATGTATT	NP_001605.1:p.Cys272Ter
NR_037688.2:n.886_887insAATTTATGTATT
NM_001614.5:c.814_815insAATTTATGTATT MANE Select	NP_001605.1:p.Cys272Ter
NR_037688.3:n.886_887insAATTTATGTATT
NM_001199954.3:c.814_815insAATTTATGTATT	NP_001186883.1:p.Cys272Ter