Canonical Allele Identifier: CA916082927

Gene: GLI3

Linked Data

• ClinVar Variation Id: 857479
• ClinVar RCV Id: RCV001063154
• dbSNP Id: rs1784103216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040186_42040190del , CM000669.2:g.42040186_42040190del	GRCh38
NC_000007.13:g.42079785_42079789del , CM000669.1:g.42079785_42079789del	GRCh37
NC_000007.12:g.42046310_42046314del	NCBI36
NG_008434.1:g.201831_201835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.877_881del MANE Select	ENSP00000379258.3:p.Thr293ValfsTer9
ENST00000677288.1:c.700_704del	ENSP00000503986.1:p.Thr234ValfsTer9
ENST00000677605.1:c.877_881del	ENSP00000503743.1:p.Thr293ValfsTer9
ENST00000678429.1:c.877_881del	ENSP00000502957.1:p.Thr293ValfsTer9
ENST00000395925.7:c.877_881del	ENSP00000379258.3:p.Thr293ValfsTer9
ENST00000479210.1:n.854_858del
NM_000168.5:c.877_881del	NP_000159.3:p.Thr293ValfsTer9
XM_005249703.1:c.877_881del	XP_005249760.1:p.Thr293ValfsTer9
XM_005249704.2:c.877_881del	XP_005249761.1:p.Thr293ValfsTer9
XM_011515272.1:c.877_881del	XP_011513574.1:p.Thr293ValfsTer9
XM_011515273.1:c.877_881del	XP_011513575.1:p.Thr293ValfsTer9
XM_011515274.1:c.700_704del	XP_011513576.1:p.Thr234ValfsTer9
XM_011515274.2:c.700_704del	XP_011513576.1:p.Thr234ValfsTer9
XM_017011997.1:c.874_878del	XP_016867486.1:p.Thr292ValfsTer9
NM_000168.6:c.877_881del MANE Select	NP_000159.3:p.Thr293ValfsTer9