Canonical Allele Identifier: CA2573142118

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1679363
• ClinVar RCV Id: RCV002226960
• dbSNP Id: rs2128704936

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964729del , CM000669.2:g.41964729del	GRCh38
NC_000007.13:g.42004327del , CM000669.1:g.42004327del	GRCh37
NC_000007.12:g.41970852del	NCBI36
NG_008434.1:g.277294del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.4346del MANE Select	ENSP00000379258.3:p.Gly1449AlafsTer?
ENST00000677288.1:c.4172del	ENSP00000503986.1:p.Gly1391AlafsTer?
ENST00000677605.1:c.4346del	ENSP00000503743.1:p.Gly1449AlafsTer?
ENST00000678429.1:c.4346del	ENSP00000502957.1:p.Gly1449AlafsTer?
ENST00000395925.7:c.4346del	ENSP00000379258.3:p.Gly1449AlafsTer?
ENST00000479210.1:n.4323del
NM_000168.5:c.4346del	NP_000159.3:p.Gly1449AlafsTer?
XM_005249703.1:c.4346del	XP_005249760.1:p.Gly1449AlafsTer?
XM_005249704.2:c.4346del	XP_005249761.1:p.Gly1449AlafsTer?
XM_011515272.1:c.4346del	XP_011513574.1:p.Gly1449AlafsTer?
XM_011515273.1:c.4346del	XP_011513575.1:p.Gly1449AlafsTer?
XM_011515274.1:c.4169del	XP_011513576.1:p.Gly1390AlafsTer?
XM_011515274.2:c.4169del	XP_011513576.1:p.Gly1390AlafsTer?
XM_017011997.1:c.4343del	XP_016867486.1:p.Gly1448AlafsTer?
NM_000168.6:c.4346del MANE Select	NP_000159.3:p.Gly1449AlafsTer?