Canonical Allele Identifier: CA2580077118

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2038410
• ClinVar RCV Id: RCV002907614

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040231dup , CM000669.2:g.42040231dup	GRCh38
NC_000007.13:g.42079830dup , CM000669.1:g.42079830dup	GRCh37
NC_000007.12:g.42046355dup	NCBI36
NG_008434.1:g.201790dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.836dup MANE Select	ENSP00000379258.3:p.Ser280LeufsTer24
ENST00000677288.1:c.659dup	ENSP00000503986.1:p.Ser221LeufsTer24
ENST00000677605.1:c.836dup	ENSP00000503743.1:p.Ser280LeufsTer24
ENST00000678429.1:c.836dup	ENSP00000502957.1:p.Ser280LeufsTer24
ENST00000395925.7:c.836dup	ENSP00000379258.3:p.Ser280LeufsTer24
ENST00000479210.1:n.813dup
NM_000168.5:c.836dup	NP_000159.3:p.Ser280LeufsTer24
XM_005249703.1:c.836dup	XP_005249760.1:p.Ser280LeufsTer24
XM_005249704.2:c.836dup	XP_005249761.1:p.Ser280LeufsTer24
XM_011515272.1:c.836dup	XP_011513574.1:p.Ser280LeufsTer24
XM_011515273.1:c.836dup	XP_011513575.1:p.Ser280LeufsTer24
XM_011515274.1:c.659dup	XP_011513576.1:p.Ser221LeufsTer24
XM_011515274.2:c.659dup	XP_011513576.1:p.Ser221LeufsTer24
XM_017011997.1:c.833dup	XP_016867486.1:p.Ser279LeufsTer24
NM_000168.6:c.836dup MANE Select	NP_000159.3:p.Ser280LeufsTer24