Canonical Allele Identifier: CA2695207667

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040059_42040060dup , CM000669.2:g.42040059_42040060dup	GRCh38
NC_000007.13:g.42079658_42079659dup , CM000669.1:g.42079658_42079659dup	GRCh37
NC_000007.12:g.42046183_42046184dup	NCBI36
NG_008434.1:g.201961_201962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1007_1008dup MANE Select	ENSP00000379258.3:p.Leu337ThrfsTer11
ENST00000677288.1:c.830_831dup	ENSP00000503986.1:p.Leu278ThrfsTer11
ENST00000677605.1:c.1007_1008dup	ENSP00000503743.1:p.Leu337ThrfsTer11
ENST00000678429.1:c.1007_1008dup	ENSP00000502957.1:p.Leu337ThrfsTer11
ENST00000395925.7:c.1007_1008dup	ENSP00000379258.3:p.Leu337ThrfsTer11
ENST00000479210.1:n.984_985dup
NM_000168.5:c.1007_1008dup	NP_000159.3:p.Leu337ThrfsTer11
XM_005249703.1:c.1007_1008dup	XP_005249760.1:p.Leu337ThrfsTer11
XM_005249704.2:c.1007_1008dup	XP_005249761.1:p.Leu337ThrfsTer11
XM_011515272.1:c.1007_1008dup	XP_011513574.1:p.Leu337ThrfsTer11
XM_011515273.1:c.1007_1008dup	XP_011513575.1:p.Leu337ThrfsTer11
XM_011515274.1:c.830_831dup	XP_011513576.1:p.Leu278ThrfsTer11
XM_011515274.2:c.830_831dup	XP_011513576.1:p.Leu278ThrfsTer11
XM_017011997.1:c.1004_1005dup	XP_016867486.1:p.Leu336ThrfsTer11
NM_000168.6:c.1007_1008dup MANE Select	NP_000159.3:p.Leu337ThrfsTer11