Canonical Allele Identifier: CA2730322688
Gene: EXOC3L4 HGNC NCBI

Linked Data

dbSNP Id: rs2139470685

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103100342_103100349del , CM000676.2:g.103100342_103100349del GRCh38
NC_000014.8:g.103566679_103566686del , CM000676.1:g.103566679_103566686del GRCh37
NC_000014.7:g.102636432_102636439del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000687959.1:c.123_130del ENSP00000508483.1:p.His41GlnfsTer?
ENST00000688303.1:c.123_130del MANE Select ENSP00000509130.1:p.His41GlnfsTer?
ENST00000380069.7:c.123_130del ENSP00000369409.3:p.His41GlnfsTer?
ENST00000559116.1:c.15_22del ENSP00000454163.1:p.His5GlnfsTer?
NM_001077594.1:c.123_130del NP_001071062.1:p.His41GlnfsTer?
XM_011537323.1:c.297_304del XP_011535625.1:p.His99GlnfsTer?
XM_011537324.1:c.297_304del XP_011535626.1:p.His99GlnfsTer?
XM_011537325.1:c.123_130del XP_011535627.1:p.His41GlnfsTer?
XM_011537326.1:c.123_130del XP_011535628.1:p.His41GlnfsTer?
XM_011537327.1:c.123_130del XP_011535629.1:p.His41GlnfsTer?
XM_011537328.1:c.123_130del XP_011535630.1:p.His41GlnfsTer?
XM_011537329.1:c.123_130del XP_011535631.1:p.His41GlnfsTer?
XM_011537330.1:c.123_130del XP_011535632.1:p.His41GlnfsTer?
XM_011537331.1:c.123_130del XP_011535633.1:p.His41GlnfsTer?
XM_011537332.1:c.123_130del XP_011535634.1:p.His41GlnfsTer?
XM_011537333.1:c.234_241del XP_011535635.1:p.His78GlnfsTer?
XR_943558.1:n.852_859del
XM_011537323.3:c.297_304del XP_011535625.1:p.His99GlnfsTer?
XM_011537324.2:c.297_304del XP_011535626.1:p.His99GlnfsTer?
XM_011537325.2:c.123_130del XP_011535627.1:p.His41GlnfsTer?
XM_011537327.2:c.123_130del XP_011535629.1:p.His41GlnfsTer?
XM_011537328.2:c.123_130del XP_011535630.1:p.His41GlnfsTer?
XM_011537329.2:c.123_130del XP_011535631.1:p.His41GlnfsTer?
XM_011537330.2:c.123_130del XP_011535632.1:p.His41GlnfsTer?
XM_011537332.2:c.123_130del XP_011535634.1:p.His41GlnfsTer?
XM_011537333.2:c.234_241del XP_011535635.1:p.His78GlnfsTer?
XR_943558.2:n.879_886del
NM_001077594.2:c.123_130del MANE Select NP_001071062.1:p.His41GlnfsTer?
NM_001394941.1:c.123_130del NP_001381870.1:p.His41GlnfsTer?
NM_001394942.1:c.123_130del NP_001381871.1:p.His41GlnfsTer?