Canonical Allele Identifier: CA2810629664

Gene: ACTG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511189_81511190insCAAACACACCCAACAC , CM000679.2:g.81511189_81511190insCAAACACACCCAACAC	GRCh38
NC_000017.10:g.79478215_79478216insCAAACACACCCAACAC , CM000679.1:g.79478215_79478216insCAAACACACCCAACAC	GRCh37
NC_000017.9:g.77092810_77092811insCAAACACACCCAACAC	NCBI36
NG_011433.1:g.6613_6614insTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000466346.2:p.Gly268CysfsTer24
ENST00000571691.6:c.729_730insTGTTGGGTGTGTTTGG	ENSP00000461407.2:p.Gly244CysfsTer24
ENST00000571721.6:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000460660.2:p.Gly268CysfsTer24
ENST00000572105.7:c.*245_*246insTGTTGGGTGTGTTTGG	ENSP00000462823.1:n.*245_*246insTGTTGGGTGTGTTTGG
ENST00000573283.7:c.801_802insTGTTGGGTGTGTTTGG MANE Select	ENSP00000458435.1:p.Gly268CysfsTer24
ENST00000574671.6:n.1201_1202insTGTTGGGTGTGTTTGG
ENST00000575659.6:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000459119.2:p.Gly268CysfsTer24
ENST00000575994.6:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000460464.2:p.Gly268CysfsTer24
ENST00000576214.3:n.1102_1103insTGTTGGGTGTGTTTGG
ENST00000576544.6:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000461672.1:p.Gly268CysfsTer24
ENST00000615544.5:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000477968.1:p.Gly268CysfsTer24
ENST00000644774.2:c.774_775insTGTTGGGTGTGTTTGG	ENSP00000493648.2:p.Gly259CysfsTer24
ENST00000679410.1:n.925_926insTGTTGGGTGTGTTTGG
ENST00000679480.1:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000506201.1:p.Gly268CysfsTer24
ENST00000679535.1:n.1102_1103insTGTTGGGTGTGTTTGG
ENST00000679778.1:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000505235.1:p.Gly268CysfsTer24
ENST00000680227.1:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000506253.1:p.Gly268CysfsTer24
ENST00000680727.1:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000505193.1:p.Gly268CysfsTer24
ENST00000681052.1:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000505060.1:p.Gly268CysfsTer24
ENST00000681092.1:c.*605_*606insTGTTGGGTGTGTTTGG	ENSP00000506720.1:n.*605_*606insTGTTGGGTGTGTTTGG
ENST00000681842.1:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000506126.1:p.Gly268CysfsTer24
ENST00000331925.6:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000331514.2:p.Gly268CysfsTer24
ENST00000572105.6:c.*245_*246insTGTTGGGTGTGTTTGG	ENSP00000462823.1:n.*245_*246insTGTTGGGTGTGTTTGG
ENST00000573283.5:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000458435.1:p.Gly268CysfsTer24
ENST00000574671.5:n.660_661insTGTTGGGTGTGTTTGG
ENST00000575087.5:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000459124.1:p.Gly268CysfsTer24
ENST00000575842.5:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000458162.1:p.Gly268CysfsTer24
ENST00000576209.5:n.686_687insTGTTGGGTGTGTTTGG
ENST00000576214.2:n.999_1000insTGTTGGGTGTGTTTGG
ENST00000576544.5:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000461672.1:p.Gly268CysfsTer24
ENST00000576917.5:n.854_855insTGTTGGGTGTGTTTGG
ENST00000615544.4:c.801_802insTGTTGGGTGTGTTTGG	ENSP00000477968.1:p.Gly268CysfsTer24
NM_001199954.1:c.801_802insTGTTGGGTGTGTTTGG	NP_001186883.1:p.Gly268CysfsTer24
NM_001614.3:c.801_802insTGTTGGGTGTGTTTGG	NP_001605.1:p.Gly268CysfsTer24
NR_037688.1:n.940_941insTGTTGGGTGTGTTTGG
NM_001199954.2:c.801_802insTGTTGGGTGTGTTTGG	NP_001186883.1:p.Gly268CysfsTer24
NM_001614.4:c.801_802insTGTTGGGTGTGTTTGG	NP_001605.1:p.Gly268CysfsTer24
NR_037688.2:n.873_874insTGTTGGGTGTGTTTGG
NM_001614.5:c.801_802insTGTTGGGTGTGTTTGG MANE Select	NP_001605.1:p.Gly268CysfsTer24
NR_037688.3:n.873_874insTGTTGGGTGTGTTTGG
NM_001199954.3:c.801_802insTGTTGGGTGTGTTTGG	NP_001186883.1:p.Gly268CysfsTer24