Canonical Allele Identifier: CA2695207668

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040069_42040070dup , CM000669.2:g.42040069_42040070dup	GRCh38
NC_000007.13:g.42079668_42079669dup , CM000669.1:g.42079668_42079669dup	GRCh37
NC_000007.12:g.42046193_42046194dup	NCBI36
NG_008434.1:g.201951_201952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.997_998dup MANE Select	ENSP00000379258.3:p.Tyr334ProfsTer14
ENST00000677288.1:c.820_821dup	ENSP00000503986.1:p.Tyr275ProfsTer14
ENST00000677605.1:c.997_998dup	ENSP00000503743.1:p.Tyr334ProfsTer14
ENST00000678429.1:c.997_998dup	ENSP00000502957.1:p.Tyr334ProfsTer14
ENST00000395925.7:c.997_998dup	ENSP00000379258.3:p.Tyr334ProfsTer14
ENST00000479210.1:n.974_975dup
NM_000168.5:c.997_998dup	NP_000159.3:p.Tyr334ProfsTer14
XM_005249703.1:c.997_998dup	XP_005249760.1:p.Tyr334ProfsTer14
XM_005249704.2:c.997_998dup	XP_005249761.1:p.Tyr334ProfsTer14
XM_011515272.1:c.997_998dup	XP_011513574.1:p.Tyr334ProfsTer14
XM_011515273.1:c.997_998dup	XP_011513575.1:p.Tyr334ProfsTer14
XM_011515274.1:c.820_821dup	XP_011513576.1:p.Tyr275ProfsTer14
XM_011515274.2:c.820_821dup	XP_011513576.1:p.Tyr275ProfsTer14
XM_017011997.1:c.994_995dup	XP_016867486.1:p.Tyr333ProfsTer14
NM_000168.6:c.997_998dup MANE Select	NP_000159.3:p.Tyr334ProfsTer14