Canonical Allele Identifier: CA2580077126

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2429657
• ClinVar RCV Id: RCV003127111

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966270_41966275dup , CM000669.2:g.41966270_41966275dup	GRCh38
NC_000007.13:g.42005868_42005873dup , CM000669.1:g.42005868_42005873dup	GRCh37
NC_000007.12:g.41972393_41972398dup	NCBI36
NG_008434.1:g.275746_275751dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2798_2803dup MANE Select	ENSP00000379258.3:p.Ala934_Ala935insAspAl...
ENST00000677288.1:c.2624_2629dup	ENSP00000503986.1:p.Ala876_Ala877insAspAl...
ENST00000677605.1:c.2798_2803dup	ENSP00000503743.1:p.Ala934_Ala935insAspAl...
ENST00000678429.1:c.2798_2803dup	ENSP00000502957.1:p.Ala934_Ala935insAspAl...
ENST00000395925.7:c.2798_2803dup	ENSP00000379258.3:p.Ala934_Ala935insAspAl...
ENST00000479210.1:n.2775_2780dup
NM_000168.5:c.2798_2803dup	NP_000159.3:p.Ala934_Ala935insAspAla
XM_005249703.1:c.2798_2803dup	XP_005249760.1:p.Ala934_Ala935insAspAla
XM_005249704.2:c.2798_2803dup	XP_005249761.1:p.Ala934_Ala935insAspAla
XM_011515272.1:c.2798_2803dup	XP_011513574.1:p.Ala934_Ala935insAspAla
XM_011515273.1:c.2798_2803dup	XP_011513575.1:p.Ala934_Ala935insAspAla
XM_011515274.1:c.2621_2626dup	XP_011513576.1:p.Ala875_Ala876insAspAla
XM_011515274.2:c.2621_2626dup	XP_011513576.1:p.Ala875_Ala876insAspAla
XM_017011997.1:c.2795_2800dup	XP_016867486.1:p.Ala933_Ala934insAspAla
NM_000168.6:c.2798_2803dup MANE Select	NP_000159.3:p.Ala934_Ala935insAspAla