Canonical Allele Identifier: CA1139660047

Gene: GLI3

Linked Data

• ClinVar Variation Id: 985260
• ClinVar RCV Id: RCV001266063
• dbSNP Id: rs1787181000

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966315_41966369del , CM000669.2:g.41966315_41966369del	GRCh38
NC_000007.13:g.42005913_42005967del , CM000669.1:g.42005913_42005967del	GRCh37
NC_000007.12:g.41972438_41972492del	NCBI36
NG_008434.1:g.275657_275711del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2709_2763del MANE Select	ENSP00000379258.3:p.Arg905ProfsTer?
ENST00000677288.1:c.2535_2589del	ENSP00000503986.1:p.Arg847ProfsTer?
ENST00000677605.1:c.2709_2763del	ENSP00000503743.1:p.Arg905ProfsTer?
ENST00000678429.1:c.2709_2763del	ENSP00000502957.1:p.Arg905ProfsTer?
ENST00000395925.7:c.2709_2763del	ENSP00000379258.3:p.Arg905ProfsTer?
ENST00000479210.1:n.2686_2740del
NM_000168.5:c.2709_2763del	NP_000159.3:p.Arg905ProfsTer?
XM_005249703.1:c.2709_2763del	XP_005249760.1:p.Arg905ProfsTer?
XM_005249704.2:c.2709_2763del	XP_005249761.1:p.Arg905ProfsTer?
XM_011515272.1:c.2709_2763del	XP_011513574.1:p.Arg905ProfsTer?
XM_011515273.1:c.2709_2763del	XP_011513575.1:p.Arg905ProfsTer?
XM_011515274.1:c.2532_2586del	XP_011513576.1:p.Arg846ProfsTer?
XM_011515274.2:c.2532_2586del	XP_011513576.1:p.Arg846ProfsTer?
XM_017011997.1:c.2706_2760del	XP_016867486.1:p.Arg904ProfsTer?
NM_000168.6:c.2709_2763del MANE Select	NP_000159.3:p.Arg905ProfsTer?