Canonical Allele Identifier: CA573911006

Gene: GLI3

Linked Data

• dbSNP Id: rs780192667
• gnomAD v2: 7-42088247-A-ACAGATGGT
• MyVariant Identifiers: chr7:g.42088247_42088248insCAGATGGT (hg19) ; chr7:g.42048648_42048649insCAGATGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048648_42048649insCAGATGGT , CM000669.2:g.42048648_42048649insCAGATGGT	GRCh38
NC_000007.13:g.42088247_42088248insCAGATGGT , CM000669.1:g.42088247_42088248insCAGATGGT	GRCh37
NC_000007.12:g.42054772_42054773insCAGATGGT	NCBI36
NG_008434.1:g.193371_193372insACCATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.521_522insACCATCTG MANE Select	ENSP00000379258.3:p.Arg175ProfsTer?
ENST00000677288.1:c.344_345insACCATCTG	ENSP00000503986.1:p.Arg116ProfsTer?
ENST00000677605.1:c.521_522insACCATCTG	ENSP00000503743.1:p.Arg175ProfsTer?
ENST00000678429.1:c.521_522insACCATCTG	ENSP00000502957.1:p.Arg175ProfsTer?
ENST00000395925.7:c.521_522insACCATCTG	ENSP00000379258.3:p.Arg175ProfsTer?
ENST00000448703.5:c.521_522insACCATCTG	ENSP00000406135.1:p.Arg175ProfsTer?
ENST00000479210.1:n.498_499insACCATCTG
NM_000168.5:c.521_522insACCATCTG	NP_000159.3:p.Arg175ProfsTer?
XM_005249703.1:c.521_522insACCATCTG	XP_005249760.1:p.Arg175ProfsTer?
XM_005249704.2:c.521_522insACCATCTG	XP_005249761.1:p.Arg175ProfsTer?
XM_011515272.1:c.521_522insACCATCTG	XP_011513574.1:p.Arg175ProfsTer?
XM_011515273.1:c.521_522insACCATCTG	XP_011513575.1:p.Arg175ProfsTer?
XM_011515274.1:c.344_345insACCATCTG	XP_011513576.1:p.Arg116ProfsTer?
XM_011515274.2:c.344_345insACCATCTG	XP_011513576.1:p.Arg116ProfsTer?
XM_017011997.1:c.518_519insACCATCTG	XP_016867486.1:p.Arg174ProfsTer?
NM_000168.6:c.521_522insACCATCTG MANE Select	NP_000159.3:p.Arg175ProfsTer?