Canonical Allele Identifier: CA2695207682

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048691dup , CM000669.2:g.42048691dup	GRCh38
NC_000007.13:g.42088290dup , CM000669.1:g.42088290dup	GRCh37
NC_000007.12:g.42054815dup	NCBI36
NG_008434.1:g.193330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.480dup MANE Select	ENSP00000379258.3:p.Ala161ArgfsTer4
ENST00000677288.1:c.303dup	ENSP00000503986.1:p.Ala102ArgfsTer4
ENST00000677605.1:c.480dup	ENSP00000503743.1:p.Ala161ArgfsTer4
ENST00000678429.1:c.480dup	ENSP00000502957.1:p.Ala161ArgfsTer4
ENST00000395925.7:c.480dup	ENSP00000379258.3:p.Ala161ArgfsTer4
ENST00000448703.5:c.480dup	ENSP00000406135.1:p.Ala161ArgfsTer4
ENST00000479210.1:n.457dup
NM_000168.5:c.480dup	NP_000159.3:p.Ala161ArgfsTer4
XM_005249703.1:c.480dup	XP_005249760.1:p.Ala161ArgfsTer4
XM_005249704.2:c.480dup	XP_005249761.1:p.Ala161ArgfsTer4
XM_011515272.1:c.480dup	XP_011513574.1:p.Ala161ArgfsTer4
XM_011515273.1:c.480dup	XP_011513575.1:p.Ala161ArgfsTer4
XM_011515274.1:c.303dup	XP_011513576.1:p.Ala102ArgfsTer4
XM_011515274.2:c.303dup	XP_011513576.1:p.Ala102ArgfsTer4
XM_017011997.1:c.477dup	XP_016867486.1:p.Ala160ArgfsTer4
NM_000168.6:c.480dup MANE Select	NP_000159.3:p.Ala161ArgfsTer4