Canonical Allele Identifier: CA986849105

Gene: ACTG1

Linked Data

• gnomAD v3: 17-81511503-C-CAA
• gnomAD v4: 17-81511503-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511503_81511504insAA , CM000679.2:g.81511503_81511504insAA	GRCh38
NC_000017.10:g.79478529_79478530insAA , CM000679.1:g.79478529_79478530insAA	GRCh37
NC_000017.9:g.77093124_77093125insAA	NCBI36
NG_011433.1:g.6298_6299insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.486_487insTT	ENSP00000466346.2:p.Val163LeufsTer24
ENST00000571691.6:c.414_415insTT	ENSP00000461407.2:p.Val139LeufsTer24
ENST00000571721.6:c.486_487insTT	ENSP00000460660.2:p.Val163LeufsTer24
ENST00000572105.7:c.527_528insTT	ENSP00000462823.1:p.Pro178AlafsTer?
ENST00000573283.7:c.486_487insTT MANE Select	ENSP00000458435.1:p.Val163LeufsTer24
ENST00000574671.6:n.886_887insTT
ENST00000575659.6:c.486_487insTT	ENSP00000459119.2:p.Val163LeufsTer24
ENST00000575994.6:c.486_487insTT	ENSP00000460464.2:p.Val163LeufsTer24
ENST00000576214.3:n.787_788insTT
ENST00000576544.6:c.486_487insTT	ENSP00000461672.1:p.Val163LeufsTer24
ENST00000615544.5:c.486_487insTT	ENSP00000477968.1:p.Val163LeufsTer24
ENST00000644774.2:c.459_460insTT	ENSP00000493648.2:p.Val154LeufsTer24
ENST00000679410.1:n.610_611insTT
ENST00000679480.1:c.486_487insTT	ENSP00000506201.1:p.Val163LeufsTer24
ENST00000679535.1:n.787_788insTT
ENST00000679778.1:c.486_487insTT	ENSP00000505235.1:p.Val163LeufsTer24
ENST00000680227.1:c.486_487insTT	ENSP00000506253.1:p.Val163LeufsTer24
ENST00000680727.1:c.486_487insTT	ENSP00000505193.1:p.Val163LeufsTer24
ENST00000681052.1:c.486_487insTT	ENSP00000505060.1:p.Val163LeufsTer24
ENST00000681092.1:c.*290_*291insTT	ENSP00000506720.1:n.*290_*291insTT
ENST00000681842.1:c.486_487insTT	ENSP00000506126.1:p.Val163LeufsTer24
ENST00000331925.6:c.486_487insTT	ENSP00000331514.2:p.Val163LeufsTer24
ENST00000571691.5:c.459_460insTT	ENSP00000461407.1:p.Val154LeufsTer24
ENST00000571721.5:c.486_487insTT	ENSP00000460660.1:p.Val163LeufsTer?
ENST00000572105.6:c.527_528insTT	ENSP00000462823.1:p.Pro178AlafsTer?
ENST00000573283.5:c.486_487insTT	ENSP00000458435.1:p.Val163LeufsTer24
ENST00000574671.5:n.345_346insTT
ENST00000575087.5:c.486_487insTT	ENSP00000459124.1:p.Val163LeufsTer24
ENST00000575659.5:c.486_487insTT	ENSP00000459119.1:p.Val163LeufsTer24
ENST00000575842.5:c.486_487insTT	ENSP00000458162.1:p.Val163LeufsTer24
ENST00000575994.5:c.486_487insTT	ENSP00000460464.1:p.Val163LeufsTer24
ENST00000576209.5:n.371_372insTT
ENST00000576214.2:n.684_685insTT
ENST00000576544.5:c.486_487insTT	ENSP00000461672.1:p.Val163LeufsTer24
ENST00000576917.5:n.539_540insTT
ENST00000615544.4:c.486_487insTT	ENSP00000477968.1:p.Val163LeufsTer24
NM_001199954.1:c.486_487insTT	NP_001186883.1:p.Val163LeufsTer24
NM_001614.3:c.486_487insTT	NP_001605.1:p.Val163LeufsTer24
NR_037688.1:n.625_626insTT
NM_001199954.2:c.486_487insTT	NP_001186883.1:p.Val163LeufsTer24
NM_001614.4:c.486_487insTT	NP_001605.1:p.Val163LeufsTer24
NR_037688.2:n.558_559insTT
NM_001614.5:c.486_487insTT MANE Select	NP_001605.1:p.Val163LeufsTer24
NR_037688.3:n.558_559insTT
NM_001199954.3:c.486_487insTT	NP_001186883.1:p.Val163LeufsTer24