Canonical Allele Identifier: CA2580077122

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41977722del , CM000669.2:g.41977722del	GRCh38
NC_000007.13:g.42017321del , CM000669.1:g.42017321del	GRCh37
NC_000007.12:g.41983846del	NCBI36
NG_008434.1:g.264300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1650del MANE Select	ENSP00000379258.3:p.Phe550LeufsTer11
ENST00000677288.1:c.1476del	ENSP00000503986.1:p.Phe492LeufsTer11
ENST00000677605.1:c.1650del	ENSP00000503743.1:p.Phe550LeufsTer11
ENST00000678429.1:c.1650del	ENSP00000502957.1:p.Phe550LeufsTer11
ENST00000395925.7:c.1650del	ENSP00000379258.3:p.Phe550LeufsTer11
ENST00000464291.1:n.203del
ENST00000479210.1:n.1627del
NM_000168.5:c.1650del	NP_000159.3:p.Phe550LeufsTer11
XM_005249703.1:c.1650del	XP_005249760.1:p.Phe550LeufsTer11
XM_005249704.2:c.1650del	XP_005249761.1:p.Phe550LeufsTer11
XM_011515272.1:c.1650del	XP_011513574.1:p.Phe550LeufsTer11
XM_011515273.1:c.1650del	XP_011513575.1:p.Phe550LeufsTer11
XM_011515274.1:c.1473del	XP_011513576.1:p.Phe491LeufsTer11
XM_011515274.2:c.1473del	XP_011513576.1:p.Phe491LeufsTer11
XM_017011997.1:c.1647del	XP_016867486.1:p.Phe549LeufsTer11
NM_000168.6:c.1650del MANE Select	NP_000159.3:p.Phe550LeufsTer11