Canonical Allele Identifier: CA2575632688
Gene: EXOC3L4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103100404_103100408del , CM000676.2:g.103100404_103100408del GRCh38
NC_000014.8:g.103566741_103566745del , CM000676.1:g.103566741_103566745del GRCh37
NC_000014.7:g.102636494_102636498del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000687959.1:c.185_189del ENSP00000508483.1:p.Gln62ArgfsTer30
ENST00000688303.1:c.185_189del MANE Select ENSP00000509130.1:p.Gln62ArgfsTer30
ENST00000380069.7:c.185_189del ENSP00000369409.3:p.Gln62ArgfsTer30
ENST00000559116.1:c.77_81del ENSP00000454163.1:p.Gln26ArgfsTer30
NM_001077594.1:c.185_189del NP_001071062.1:p.Gln62ArgfsTer30
XM_011537323.1:c.359_363del XP_011535625.1:p.Gln120ArgfsTer30
XM_011537324.1:c.359_363del XP_011535626.1:p.Gln120ArgfsTer30
XM_011537325.1:c.185_189del XP_011535627.1:p.Gln62ArgfsTer30
XM_011537326.1:c.185_189del XP_011535628.1:p.Gln62ArgfsTer30
XM_011537327.1:c.185_189del XP_011535629.1:p.Gln62ArgfsTer30
XM_011537328.1:c.185_189del XP_011535630.1:p.Gln62ArgfsTer30
XM_011537329.1:c.185_189del XP_011535631.1:p.Gln62ArgfsTer30
XM_011537330.1:c.185_189del XP_011535632.1:p.Gln62ArgfsTer30
XM_011537331.1:c.185_189del XP_011535633.1:p.Gln62ArgfsTer30
XM_011537332.1:c.185_189del XP_011535634.1:p.Gln62ArgfsTer30
XM_011537333.1:c.296_300del XP_011535635.1:p.Gln99ArgfsTer30
XR_943558.1:n.914_918del
XM_011537323.3:c.359_363del XP_011535625.1:p.Gln120ArgfsTer30
XM_011537324.2:c.359_363del XP_011535626.1:p.Gln120ArgfsTer30
XM_011537325.2:c.185_189del XP_011535627.1:p.Gln62ArgfsTer30
XM_011537327.2:c.185_189del XP_011535629.1:p.Gln62ArgfsTer30
XM_011537328.2:c.185_189del XP_011535630.1:p.Gln62ArgfsTer30
XM_011537329.2:c.185_189del XP_011535631.1:p.Gln62ArgfsTer30
XM_011537330.2:c.185_189del XP_011535632.1:p.Gln62ArgfsTer30
XM_011537332.2:c.185_189del XP_011535634.1:p.Gln62ArgfsTer30
XM_011537333.2:c.296_300del XP_011535635.1:p.Gln99ArgfsTer30
XR_943558.2:n.941_945del
NM_001077594.2:c.185_189del MANE Select NP_001071062.1:p.Gln62ArgfsTer30
NM_001394941.1:c.185_189del NP_001381870.1:p.Gln62ArgfsTer30
NM_001394942.1:c.185_189del NP_001381871.1:p.Gln62ArgfsTer30