Canonical Allele Identifier: CA2573142173

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1358687
• ClinVar RCV Id: RCV001894291
• dbSNP Id: rs2128742642

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048502_42048575del , CM000669.2:g.42048502_42048575del	GRCh38
NC_000007.13:g.42088101_42088174del , CM000669.1:g.42088101_42088174del	GRCh37
NC_000007.12:g.42054626_42054699del	NCBI36
NG_008434.1:g.193452_193525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.602_675del MANE Select	ENSP00000379258.3:p.Met201ArgfsTer?
ENST00000677288.1:c.425_498del	ENSP00000503986.1:p.Met142ArgfsTer?
ENST00000677605.1:c.602_675del	ENSP00000503743.1:p.Met201ArgfsTer?
ENST00000678429.1:c.602_675del	ENSP00000502957.1:p.Met201ArgfsTer?
ENST00000395925.7:c.602_675del	ENSP00000379258.3:p.Met201ArgfsTer?
ENST00000479210.1:n.579_652del
NM_000168.5:c.602_675del	NP_000159.3:p.Met201ArgfsTer?
XM_005249703.1:c.602_675del	XP_005249760.1:p.Met201ArgfsTer?
XM_005249704.2:c.602_675del	XP_005249761.1:p.Met201ArgfsTer?
XM_011515272.1:c.602_675del	XP_011513574.1:p.Met201ArgfsTer?
XM_011515273.1:c.602_675del	XP_011513575.1:p.Met201ArgfsTer?
XM_011515274.1:c.425_498del	XP_011513576.1:p.Met142ArgfsTer?
XM_011515274.2:c.425_498del	XP_011513576.1:p.Met142ArgfsTer?
XM_017011997.1:c.599_672del	XP_016867486.1:p.Met200ArgfsTer?
NM_000168.6:c.602_675del MANE Select	NP_000159.3:p.Met201ArgfsTer?