Canonical Allele Identifier: CA2580077124

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2033452
• ClinVar RCV Id: RCV002872385

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048640dup , CM000669.2:g.42048640dup	GRCh38
NC_000007.13:g.42088239dup , CM000669.1:g.42088239dup	GRCh37
NC_000007.12:g.42054764dup	NCBI36
NG_008434.1:g.193383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.533dup MANE Select	ENSP00000379258.3:p.His179ThrfsTer20
ENST00000677288.1:c.356dup	ENSP00000503986.1:p.His120ThrfsTer20
ENST00000677605.1:c.533dup	ENSP00000503743.1:p.His179ThrfsTer20
ENST00000678429.1:c.533dup	ENSP00000502957.1:p.His179ThrfsTer20
ENST00000395925.7:c.533dup	ENSP00000379258.3:p.His179ThrfsTer20
ENST00000448703.5:c.533dup	ENSP00000406135.1:p.His179ThrfsTer?
ENST00000479210.1:n.510dup
NM_000168.5:c.533dup	NP_000159.3:p.His179ThrfsTer20
XM_005249703.1:c.533dup	XP_005249760.1:p.His179ThrfsTer20
XM_005249704.2:c.533dup	XP_005249761.1:p.His179ThrfsTer20
XM_011515272.1:c.533dup	XP_011513574.1:p.His179ThrfsTer20
XM_011515273.1:c.533dup	XP_011513575.1:p.His179ThrfsTer20
XM_011515274.1:c.356dup	XP_011513576.1:p.His120ThrfsTer20
XM_011515274.2:c.356dup	XP_011513576.1:p.His120ThrfsTer20
XM_017011997.1:c.530dup	XP_016867486.1:p.His178ThrfsTer20
NM_000168.6:c.533dup MANE Select	NP_000159.3:p.His179ThrfsTer20