Canonical Allele Identifier: CA2740090867
Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951653
ClinVar RCV Id: RCV003812340

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81511274_81511276del , CM000679.2:g.81511274_81511276del GRCh38
NC_000017.10:g.79478300_79478302del , CM000679.1:g.79478300_79478302del GRCh37
NC_000017.9:g.77092895_77092897del NCBI36
NG_011433.1:g.6526_6528del

Transcript Alleles

HGVS Amino-acid change
ENST00000570382.2:c.714_716del ENSP00000466346.2:p.Lys238_Ser239delinsAs...
ENST00000571691.6:c.642_644del ENSP00000461407.2:p.Lys214_Ser215delinsAs...
ENST00000571721.6:c.714_716del ENSP00000460660.2:p.Lys238_Ser239delinsAs...
ENST00000572105.7:c.*158_*160del ENSP00000462823.1:n.*158_*160del
ENST00000573283.7:c.714_716del MANE Select ENSP00000458435.1:p.Lys238_Ser239delinsAs...
ENST00000574671.6:n.1114_1116del
ENST00000575659.6:c.714_716del ENSP00000459119.2:p.Lys238_Ser239delinsAs...
ENST00000575994.6:c.714_716del ENSP00000460464.2:p.Lys238_Ser239delinsAs...
ENST00000576214.3:n.1015_1017del
ENST00000576544.6:c.714_716del ENSP00000461672.1:p.Lys238_Ser239delinsAs...
ENST00000615544.5:c.714_716del ENSP00000477968.1:p.Lys238_Ser239delinsAs...
ENST00000644774.2:c.687_689del ENSP00000493648.2:p.Lys229_Ser230delinsAs...
ENST00000679410.1:n.838_840del
ENST00000679480.1:c.714_716del ENSP00000506201.1:p.Lys238_Ser239delinsAs...
ENST00000679535.1:n.1015_1017del
ENST00000679778.1:c.714_716del ENSP00000505235.1:p.Lys238_Ser239delinsAs...
ENST00000680227.1:c.714_716del ENSP00000506253.1:p.Lys238_Ser239delinsAs...
ENST00000680727.1:c.714_716del ENSP00000505193.1:p.Lys238_Ser239delinsAs...
ENST00000681052.1:c.714_716del ENSP00000505060.1:p.Lys238_Ser239delinsAs...
ENST00000681092.1:c.*518_*520del ENSP00000506720.1:n.*518_*520del
ENST00000681842.1:c.714_716del ENSP00000506126.1:p.Lys238_Ser239delinsAs...
ENST00000331925.6:c.714_716del ENSP00000331514.2:p.Lys238_Ser239delinsAs...
ENST00000571691.5:c.687_689del ENSP00000461407.1:p.Lys229_Ser230delinsAs...
ENST00000572105.6:c.*158_*160del ENSP00000462823.1:n.*158_*160del
ENST00000573283.5:c.714_716del ENSP00000458435.1:p.Lys238_Ser239delinsAs...
ENST00000574671.5:n.573_575del
ENST00000575087.5:c.714_716del ENSP00000459124.1:p.Lys238_Ser239delinsAs...
ENST00000575842.5:c.714_716del ENSP00000458162.1:p.Lys238_Ser239delinsAs...
ENST00000576209.5:n.599_601del
ENST00000576214.2:n.912_914del
ENST00000576544.5:c.714_716del ENSP00000461672.1:p.Lys238_Ser239delinsAs...
ENST00000576917.5:n.767_769del
ENST00000615544.4:c.714_716del ENSP00000477968.1:p.Lys238_Ser239delinsAs...
NM_001199954.1:c.714_716del NP_001186883.1:p.Lys238_Ser239delinsAsn
NM_001614.3:c.714_716del NP_001605.1:p.Lys238_Ser239delinsAsn
NR_037688.1:n.853_855del
NM_001199954.2:c.714_716del NP_001186883.1:p.Lys238_Ser239delinsAsn
NM_001614.4:c.714_716del NP_001605.1:p.Lys238_Ser239delinsAsn
NR_037688.2:n.786_788del
NM_001614.5:c.714_716del MANE Select NP_001605.1:p.Lys238_Ser239delinsAsn
NR_037688.3:n.786_788del
NM_001199954.3:c.714_716del NP_001186883.1:p.Lys238_Ser239delinsAsn