Canonical Allele Identifier: CA2640434391
Gene: ACTG1 HGNC NCBI

Linked Data

gnomAD v4: 17-81511025-T-TTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81511025_81511026insTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAA , CM000679.2:g.81511025_81511026insTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAA GRCh38
NC_000017.10:g.79478051_79478052insTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAA , CM000679.1:g.79478051_79478052insTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAA GRCh37
NC_000017.9:g.77092646_77092647insTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAA NCBI36
NG_011433.1:g.6776_6777insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000570382.2:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000466346.2:p.Asn296PhefsTer18
ENST00000571691.6:c.813_814insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000461407.2:p.Asn272PhefsTer18
ENST00000571721.6:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000460660.2:p.Asn296PhefsTer18
ENST00000572105.7:c.*329_*330insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000462823.1:n.*329_*330insTTCGAAAAGAAATTGTCCTTGAAGCTTGT...
ENST00000573283.7:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA MANE Select ENSP00000458435.1:p.Asn296PhefsTer18
ENST00000574671.6:n.1285_1286insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000575659.6:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000459119.2:p.Asn296PhefsTer18
ENST00000575994.6:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000460464.2:p.Asn296PhefsTer18
ENST00000576214.3:n.1186_1187insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000576544.6:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000461672.1:p.Asn296PhefsTer18
ENST00000615544.5:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000477968.1:p.Asn296PhefsTer18
ENST00000644774.2:c.858_859insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000493648.2:p.Asn287PhefsTer18
ENST00000679410.1:n.1088_1089insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000679480.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000506201.1:p.Asn296PhefsTer18
ENST00000679535.1:n.1186_1187insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000679778.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000505235.1:p.Asn296PhefsTer18
ENST00000680227.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000506253.1:p.Asn296PhefsTer18
ENST00000680727.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000505193.1:p.Asn296PhefsTer18
ENST00000681052.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000505060.1:p.Asn296PhefsTer18
ENST00000681092.1:c.*689_*690insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000506720.1:n.*689_*690insTTCGAAAAGAAATTGTCCTTGAAGCTTGT...
ENST00000681842.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000506126.1:p.Asn296PhefsTer18
ENST00000331925.6:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000331514.2:p.Asn296PhefsTer18
ENST00000572105.6:c.*329_*330insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000462823.1:n.*329_*330insTTCGAAAAGAAATTGTCCTTGAAGCTTGT...
ENST00000573283.5:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000458435.1:p.Asn296PhefsTer18
ENST00000574671.5:n.744_745insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000575087.5:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000459124.1:p.Asn296PhefsTer18
ENST00000575842.5:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000458162.1:p.Asn296PhefsTer18
ENST00000576209.5:n.770_771insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000576544.5:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000461672.1:p.Asn296PhefsTer18
ENST00000576917.5:n.1017_1018insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
ENST00000615544.4:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA ENSP00000477968.1:p.Asn296PhefsTer18
NM_001199954.1:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA NP_001186883.1:p.Asn296PhefsTer18
NM_001614.3:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA NP_001605.1:p.Asn296PhefsTer18
NR_037688.1:n.1024_1025insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
NM_001199954.2:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA NP_001186883.1:p.Asn296PhefsTer18
NM_001614.4:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA NP_001605.1:p.Asn296PhefsTer18
NR_037688.2:n.957_958insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
NM_001614.5:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA MANE Select NP_001605.1:p.Asn296PhefsTer18
NR_037688.3:n.957_958insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA
NM_001199954.3:c.885_886insTTCGAAAAGAAATTGTCCTTGAAGCTTGTATCTGATATCAGCACTGGATTGTAGA NP_001186883.1:p.Asn296PhefsTer18
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