Canonical Allele Identifier: CA3046256849
Gene: ACTG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81512180_81512231del , CM000679.2:g.81512180_81512231del GRCh38
NC_000017.10:g.79479206_79479257del , CM000679.1:g.79479206_79479257del GRCh37
NC_000017.9:g.77093801_77093852del NCBI36
NG_011433.1:g.5572_5623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570382.2:c.123+2_124-37del ENSP00000466346.2:n.123+2_124-37del
ENST00000571691.6:c.123+2_124-37del ENSP00000461407.2:n.123+2_124-37del
ENST00000571721.6:c.123+2_124-37del ENSP00000460660.2:n.123+2_124-37del
ENST00000572105.7:c.123+2_124-37del ENSP00000462823.1:n.123+2_124-37del
ENST00000573283.7:c.123+2_124-37del MANE Select ENSP00000458435.1:n.123+2_124-37del
ENST00000574671.6:n.247+2_248-37del
ENST00000575659.6:c.123+2_124-37del ENSP00000459119.2:n.123+2_124-37del
ENST00000575994.6:c.123+2_124-37del ENSP00000460464.2:n.123+2_124-37del
ENST00000576214.3:n.247+2_248-37del
ENST00000576544.6:c.123+2_124-37del ENSP00000461672.1:n.123+2_124-37del
ENST00000615544.5:c.123+2_124-37del ENSP00000477968.1:n.123+2_124-37del
ENST00000644774.2:c.123+2_123+53del ENSP00000493648.2:n.123+2_123+53del
ENST00000679410.1:n.247+2_248-37del
ENST00000679480.1:c.123+2_124-37del ENSP00000506201.1:n.123+2_124-37del
ENST00000679535.1:n.247+2_248-37del
ENST00000679778.1:c.123+2_124-37del ENSP00000505235.1:n.123+2_124-37del
ENST00000680227.1:c.123+2_124-37del ENSP00000506253.1:n.123+2_124-37del
ENST00000680727.1:c.123+2_124-37del ENSP00000505193.1:n.123+2_124-37del
ENST00000681052.1:c.123+2_124-37del ENSP00000505060.1:n.123+2_124-37del
ENST00000681092.1:c.107+18_108-37del ENSP00000506720.1:n.107+18_108-37del
ENST00000681842.1:c.123+2_124-37del ENSP00000506126.1:n.123+2_124-37del
ENST00000331925.6:c.123+2_124-37del ENSP00000331514.2:n.123+2_124-37del
ENST00000570382.1:c.123+2_124-37del ENSP00000466346.1:n.123+2_124-37del
ENST00000571691.5:c.123+2_123+53del ENSP00000461407.1:n.123+2_123+53del
ENST00000571721.5:c.123+2_124-37del ENSP00000460660.1:n.123+2_124-37del
ENST00000572105.6:c.123+2_124-37del ENSP00000462823.1:n.123+2_124-37del
ENST00000573283.5:c.123+2_124-37del ENSP00000458435.1:n.123+2_124-37del
ENST00000575087.5:c.123+2_124-37del ENSP00000459124.1:n.123+2_124-37del
ENST00000575659.5:c.123+2_124-37del ENSP00000459119.1:n.123+2_124-37del
ENST00000575842.5:c.123+2_124-37del ENSP00000458162.1:n.123+2_124-37del
ENST00000575994.5:c.123+2_124-37del ENSP00000460464.1:n.123+2_124-37del
ENST00000576214.2:n.144+2_145-37del
ENST00000576544.5:c.123+2_124-37del ENSP00000461672.1:n.123+2_124-37del
ENST00000576917.5:n.176+2_177-37del
ENST00000615544.4:c.123+2_124-37del ENSP00000477968.1:n.123+2_124-37del
NM_001199954.1:c.123+2_124-37del NP_001186883.1:n.123+2_124-37del
NM_001614.3:c.123+2_124-37del NP_001605.1:n.123+2_124-37del
NR_037688.1:n.262+2_263-37del
NM_001199954.2:c.123+2_124-37del NP_001186883.1:n.123+2_124-37del
NM_001614.4:c.123+2_124-37del NP_001605.1:n.123+2_124-37del
NR_037688.2:n.195+2_196-37del
NM_001614.5:c.123+2_124-37del MANE Select NP_001605.1:n.123+2_124-37del
NR_037688.3:n.195+2_196-37del
NM_001199954.3:c.123+2_124-37del NP_001186883.1:n.123+2_124-37del