Canonical Allele Identifier: CA2841539533

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972555dup , CM000669.2:g.41972555dup	GRCh38
NC_000007.13:g.42012154dup , CM000669.1:g.42012154dup	GRCh37
NC_000007.12:g.41978679dup	NCBI36
NG_008434.1:g.269466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1886dup MANE Select	ENSP00000379258.3:p.Thr630AspfsTer?
ENST00000677288.1:c.1712dup	ENSP00000503986.1:p.Thr572AspfsTer?
ENST00000677605.1:c.1886dup	ENSP00000503743.1:p.Thr630AspfsTer?
ENST00000678429.1:c.1886dup	ENSP00000502957.1:p.Thr630AspfsTer?
ENST00000395925.7:c.1886dup	ENSP00000379258.3:p.Thr630AspfsTer?
ENST00000464291.1:n.439dup
ENST00000479210.1:n.1863dup
NM_000168.5:c.1886dup	NP_000159.3:p.Thr630AspfsTer?
XM_005249703.1:c.1886dup	XP_005249760.1:p.Thr630AspfsTer?
XM_005249704.2:c.1886dup	XP_005249761.1:p.Thr630AspfsTer?
XM_011515272.1:c.1886dup	XP_011513574.1:p.Thr630AspfsTer?
XM_011515273.1:c.1886dup	XP_011513575.1:p.Thr630AspfsTer?
XM_011515274.1:c.1709dup	XP_011513576.1:p.Thr571AspfsTer?
XM_011515274.2:c.1709dup	XP_011513576.1:p.Thr571AspfsTer?
XM_017011997.1:c.1883dup	XP_016867486.1:p.Thr629AspfsTer?
NM_000168.6:c.1886dup MANE Select	NP_000159.3:p.Thr630AspfsTer?