Canonical Allele Identifier: CA2695207656

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972363del , CM000669.2:g.41972363del	GRCh38
NC_000007.13:g.42011962del , CM000669.1:g.42011962del	GRCh37
NC_000007.12:g.41978487del	NCBI36
NG_008434.1:g.269660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2080del MANE Select	ENSP00000379258.3:p.Thr694ProfsTer8
ENST00000677288.1:c.1906del	ENSP00000503986.1:p.Thr636ProfsTer8
ENST00000677605.1:c.2080del	ENSP00000503743.1:p.Thr694ProfsTer8
ENST00000678429.1:c.2080del	ENSP00000502957.1:p.Thr694ProfsTer8
ENST00000395925.7:c.2080del	ENSP00000379258.3:p.Thr694ProfsTer8
ENST00000479210.1:n.2057del
NM_000168.5:c.2080del	NP_000159.3:p.Thr694ProfsTer8
XM_005249703.1:c.2080del	XP_005249760.1:p.Thr694ProfsTer8
XM_005249704.2:c.2080del	XP_005249761.1:p.Thr694ProfsTer8
XM_011515272.1:c.2080del	XP_011513574.1:p.Thr694ProfsTer8
XM_011515273.1:c.2080del	XP_011513575.1:p.Thr694ProfsTer8
XM_011515274.1:c.1903del	XP_011513576.1:p.Thr635ProfsTer8
XM_011515274.2:c.1903del	XP_011513576.1:p.Thr635ProfsTer8
XM_017011997.1:c.2077del	XP_016867486.1:p.Thr693ProfsTer8
NM_000168.6:c.2080del MANE Select	NP_000159.3:p.Thr694ProfsTer8