Canonical Allele Identifier: CA2580077117

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1810428
• ClinVar RCV Id: RCV002509915

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040167_42040169dup , CM000669.2:g.42040167_42040169dup	GRCh38
NC_000007.13:g.42079766_42079768dup , CM000669.1:g.42079766_42079768dup	GRCh37
NC_000007.12:g.42046291_42046293dup	NCBI36
NG_008434.1:g.201852_201854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.898_900dup MANE Select	ENSP00000379258.3:p.Ser300_Asp301insSer
ENST00000677288.1:c.721_723dup	ENSP00000503986.1:p.Ser241_Asp242insSer
ENST00000677605.1:c.898_900dup	ENSP00000503743.1:p.Ser300_Asp301insSer
ENST00000678429.1:c.898_900dup	ENSP00000502957.1:p.Ser300_Asp301insSer
ENST00000395925.7:c.898_900dup	ENSP00000379258.3:p.Ser300_Asp301insSer
ENST00000479210.1:n.875_877dup
NM_000168.5:c.898_900dup	NP_000159.3:p.Ser300_Asp301insSer
XM_005249703.1:c.898_900dup	XP_005249760.1:p.Ser300_Asp301insSer
XM_005249704.2:c.898_900dup	XP_005249761.1:p.Ser300_Asp301insSer
XM_011515272.1:c.898_900dup	XP_011513574.1:p.Ser300_Asp301insSer
XM_011515273.1:c.898_900dup	XP_011513575.1:p.Ser300_Asp301insSer
XM_011515274.1:c.721_723dup	XP_011513576.1:p.Ser241_Asp242insSer
XM_011515274.2:c.721_723dup	XP_011513576.1:p.Ser241_Asp242insSer
XM_017011997.1:c.895_897dup	XP_016867486.1:p.Ser299_Asp300insSer
NM_000168.6:c.898_900dup MANE Select	NP_000159.3:p.Ser300_Asp301insSer