Canonical Allele Identifier: CA2188524005
Community Standard Title: NM_000126.4(ETFA):c.427dup (p.Thr143AsnfsTer18)
Gene: ETFA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.76287870dup , CM000677.2:g.76287870dup GRCh38
NC_000015.9:g.76580211dup , CM000677.1:g.76580211dup GRCh37
NC_000015.8:g.74367266dup NCBI36
NG_007077.2:g.28600dup

Transcript Alleles

HGVS Amino-acid Change
NM_000126.4:c.427dup MANE Select NP_000117.1:p.Thr143AsnfsTer18
ENST00000557943.6:c.427dup MANE Select ENSP00000452762.1:p.Thr143AsnfsTer18
NM_000126.3:c.427dup NP_000117.1:p.Thr143AsnfsTer18
NM_001127716.1:c.280dup NP_001121188.1:p.Thr94AsnfsTer18
NM_001127716.2:c.280dup NP_001121188.1:p.Thr94AsnfsTer18
ENST00000267950.12:c.*150dup ENSP00000267950.8:n.*150dup
ENST00000433983.6:c.280dup ENSP00000399273.2:p.Thr94AsnfsTer18
ENST00000557943.5:c.427dup ENSP00000452762.1:p.Thr143AsnfsTer18
ENST00000559075.5:n.451dup
ENST00000559386.1:c.427dup ENSP00000452777.1:p.Thr143AsnfsTer18
ENST00000559386.2:c.427dup ENSP00000452777.2:p.Thr143AsnfsTer18
ENST00000559602.5:c.115dup ENSP00000452659.1:p.Thr39AsnfsTer18
ENST00000559758.5:n.268dup
ENST00000559973.5:c.137dup
ENST00000560044.5:c.*422dup ENSP00000452942.1:n.*422dup
ENST00000560044.6:c.*422dup ENSP00000452942.1:n.*422dup
ENST00000560309.5:c.*340dup ENSP00000453753.1:n.*340dup
ENST00000560345.5:c.239dup
ENST00000560595.5:c.427dup ENSP00000453345.1:p.Thr143AsnfsTer18
ENST00000560595.6:c.427dup ENSP00000453345.2:p.Thr143AsnfsTer18
ENST00000560726.5:c.-354dup ENSP00000453098.1:n.-354dup
ENST00000560899.5:c.-354dup ENSP00000453422.1:n.-354dup
ENST00000561092.1:n.359dup
ENST00000565910.6:c.427dup ENSP00000458001.2:p.Thr143AsnfsTer18
ENST00000685118.1:c.*422dup ENSP00000509473.1:n.*422dup
ENST00000685548.1:c.427dup ENSP00000510343.1:p.Thr143AsnfsTer18
ENST00000685863.1:c.280dup ENSP00000509361.1:p.Thr94AsnfsTer18
ENST00000687293.1:c.427dup ENSP00000509928.1:p.Thr143AsnfsTer18
ENST00000687975.1:c.*303dup ENSP00000508690.1:n.*303dup
ENST00000688154.1:c.427dup ENSP00000510637.1:p.Thr143AsnfsTer18
ENST00000688389.1:c.427dup ENSP00000510491.1:p.Thr143AsnfsTer18
ENST00000688637.1:n.508dup
ENST00000688908.1:c.280dup ENSP00000510242.1:p.Thr94AsnfsTer12
ENST00000689730.1:c.427dup ENSP00000510006.1:p.Thr143AsnfsTer12
ENST00000689739.1:n.508dup
ENST00000690610.1:c.427dup ENSP00000510473.1:p.Thr143AsnfsTer18
ENST00000691021.1:c.*422dup ENSP00000510805.1:n.*422dup
ENST00000691071.1:n.206dup
ENST00000691695.1:c.280dup ENSP00000509402.1:p.Thr94AsnfsTer18
ENST00000692691.1:c.427dup ENSP00000508808.1:p.Thr143AsnfsTer18
ENST00000693064.1:c.*402dup ENSP00000510720.1:n.*402dup
XR_931766.1:n.482dup
XR_931766.3:n.508dup