Canonical Allele Identifier: CA4231153

Gene: GLI3

Linked Data

• dbSNP Id: rs780192667
• ExAC: 7:42088247 A / ACAG
• MyVariant Identifiers: chr7:g.42088247_42088248insCAG (hg19) ; chr7:g.42048648_42048649insCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048648_42048649insCAG , CM000669.2:g.42048648_42048649insCAG	GRCh38
NC_000007.13:g.42088247_42088248insCAG , CM000669.1:g.42088247_42088248insCAG	GRCh37
NC_000007.12:g.42054772_42054773insCAG	NCBI36
NG_008434.1:g.193371_193372insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.521_522insCTG MANE Select	ENSP00000379258.3:p.Ile174_Arg175insCys
ENST00000677288.1:c.344_345insCTG	ENSP00000503986.1:p.Ile115_Arg116insCys
ENST00000677605.1:c.521_522insCTG	ENSP00000503743.1:p.Ile174_Arg175insCys
ENST00000678429.1:c.521_522insCTG	ENSP00000502957.1:p.Ile174_Arg175insCys
ENST00000395925.7:c.521_522insCTG	ENSP00000379258.3:p.Ile174_Arg175insCys
ENST00000448703.5:c.521_522insCTG	ENSP00000406135.1:p.Ile174_Arg175insCys
ENST00000479210.1:n.498_499insCTG
NM_000168.5:c.521_522insCTG	NP_000159.3:p.Ile174_Arg175insCys
XM_005249703.1:c.521_522insCTG	XP_005249760.1:p.Ile174_Arg175insCys
XM_005249704.2:c.521_522insCTG	XP_005249761.1:p.Ile174_Arg175insCys
XM_011515272.1:c.521_522insCTG	XP_011513574.1:p.Ile174_Arg175insCys
XM_011515273.1:c.521_522insCTG	XP_011513575.1:p.Ile174_Arg175insCys
XM_011515274.1:c.344_345insCTG	XP_011513576.1:p.Ile115_Arg116insCys
XM_011515274.2:c.344_345insCTG	XP_011513576.1:p.Ile115_Arg116insCys
XM_017011997.1:c.518_519insCTG	XP_016867486.1:p.Ile173_Arg174insCys
NM_000168.6:c.521_522insCTG MANE Select	NP_000159.3:p.Ile174_Arg175insCys