Canonical Allele Identifier: CA986848854

Gene: ACTG1

Linked Data

• gnomAD v3: 17-81511295-GAT-G
• gnomAD v4: 17-81511295-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511296_81511297del , CM000679.2:g.81511296_81511297del	GRCh38
NC_000017.10:g.79478322_79478323del , CM000679.1:g.79478322_79478323del	GRCh37
NC_000017.9:g.77092917_77092918del	NCBI36
NG_011433.1:g.6505_6506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.693_694del	ENSP00000466346.2:p.Ser232LeufsTer21
ENST00000571691.6:c.621_622del	ENSP00000461407.2:p.Ser208LeufsTer21
ENST00000571721.6:c.693_694del	ENSP00000460660.2:p.Ser232LeufsTer21
ENST00000572105.7:c.*137_*138del	ENSP00000462823.1:n.*137_*138del
ENST00000573283.7:c.693_694del MANE Select	ENSP00000458435.1:p.Ser232LeufsTer21
ENST00000574671.6:n.1093_1094del
ENST00000575659.6:c.693_694del	ENSP00000459119.2:p.Ser232LeufsTer21
ENST00000575994.6:c.693_694del	ENSP00000460464.2:p.Ser232LeufsTer21
ENST00000576214.3:n.994_995del
ENST00000576544.6:c.693_694del	ENSP00000461672.1:p.Ser232LeufsTer21
ENST00000615544.5:c.693_694del	ENSP00000477968.1:p.Ser232LeufsTer21
ENST00000644774.2:c.666_667del	ENSP00000493648.2:p.Ser223LeufsTer21
ENST00000679410.1:n.817_818del
ENST00000679480.1:c.693_694del	ENSP00000506201.1:p.Ser232LeufsTer21
ENST00000679535.1:n.994_995del
ENST00000679778.1:c.693_694del	ENSP00000505235.1:p.Ser232LeufsTer21
ENST00000680227.1:c.693_694del	ENSP00000506253.1:p.Ser232LeufsTer21
ENST00000680727.1:c.693_694del	ENSP00000505193.1:p.Ser232LeufsTer21
ENST00000681052.1:c.693_694del	ENSP00000505060.1:p.Ser232LeufsTer21
ENST00000681092.1:c.*497_*498del	ENSP00000506720.1:n.*497_*498del
ENST00000681842.1:c.693_694del	ENSP00000506126.1:p.Ser232LeufsTer21
ENST00000331925.6:c.693_694del	ENSP00000331514.2:p.Ser232LeufsTer21
ENST00000571691.5:c.666_667del	ENSP00000461407.1:p.Ser223LeufsTer?
ENST00000572105.6:c.*137_*138del	ENSP00000462823.1:n.*137_*138del
ENST00000573283.5:c.693_694del	ENSP00000458435.1:p.Ser232LeufsTer21
ENST00000574671.5:n.552_553del
ENST00000575087.5:c.693_694del	ENSP00000459124.1:p.Ser232LeufsTer21
ENST00000575842.5:c.693_694del	ENSP00000458162.1:p.Ser232LeufsTer21
ENST00000576209.5:n.578_579del
ENST00000576214.2:n.891_892del
ENST00000576544.5:c.693_694del	ENSP00000461672.1:p.Ser232LeufsTer21
ENST00000576917.5:n.746_747del
ENST00000615544.4:c.693_694del	ENSP00000477968.1:p.Ser232LeufsTer21
NM_001199954.1:c.693_694del	NP_001186883.1:p.Ser232LeufsTer21
NM_001614.3:c.693_694del	NP_001605.1:p.Ser232LeufsTer21
NR_037688.1:n.832_833del
NM_001199954.2:c.693_694del	NP_001186883.1:p.Ser232LeufsTer21
NM_001614.4:c.693_694del	NP_001605.1:p.Ser232LeufsTer21
NR_037688.2:n.765_766del
NM_001614.5:c.693_694del MANE Select	NP_001605.1:p.Ser232LeufsTer21
NR_037688.3:n.765_766del
NM_001199954.3:c.693_694del	NP_001186883.1:p.Ser232LeufsTer21