Canonical Allele Identifier: CA916082926

Gene: GLI3

Linked Data

• ClinVar Variation Id: 835724
• ClinVar RCV Id: RCV001036674
• dbSNP Id: rs1784103136

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040182del , CM000669.2:g.42040182del	GRCh38
NC_000007.13:g.42079781del , CM000669.1:g.42079781del	GRCh37
NC_000007.12:g.42046306del	NCBI36
NG_008434.1:g.201839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.885del MANE Select	ENSP00000379258.3:p.Ile296TyrfsTer14
ENST00000677288.1:c.708del	ENSP00000503986.1:p.Ile237TyrfsTer14
ENST00000677605.1:c.885del	ENSP00000503743.1:p.Ile296TyrfsTer14
ENST00000678429.1:c.885del	ENSP00000502957.1:p.Ile296TyrfsTer14
ENST00000395925.7:c.885del	ENSP00000379258.3:p.Ile296TyrfsTer14
ENST00000479210.1:n.862del
NM_000168.5:c.885del	NP_000159.3:p.Ile296TyrfsTer14
XM_005249703.1:c.885del	XP_005249760.1:p.Ile296TyrfsTer14
XM_005249704.2:c.885del	XP_005249761.1:p.Ile296TyrfsTer14
XM_011515272.1:c.885del	XP_011513574.1:p.Ile296TyrfsTer14
XM_011515273.1:c.885del	XP_011513575.1:p.Ile296TyrfsTer14
XM_011515274.1:c.708del	XP_011513576.1:p.Ile237TyrfsTer14
XM_011515274.2:c.708del	XP_011513576.1:p.Ile237TyrfsTer14
XM_017011997.1:c.882del	XP_016867486.1:p.Ile295TyrfsTer14
NM_000168.6:c.885del MANE Select	NP_000159.3:p.Ile296TyrfsTer14