Canonical Allele Identifier: CA341305

Gene: GLI3

Linked Data

• ClinVar Variation Id: 13829
• ClinVar RCV Id: RCV000014841
• dbSNP Id: rs116840754
• MyVariant Identifiers: chr7:g.42007419_42007437del (hg19) ; chr7:g.41967821_41967839del (hg38)
• PubMed: PMID:10945658 ; PMID:20301638

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967824_41967842del , CM000669.2:g.41967824_41967842del	GRCh38
NC_000007.13:g.42007422_42007440del , CM000669.1:g.42007422_42007440del	GRCh37
NC_000007.12:g.41973947_41973965del	NCBI36
NG_008434.1:g.274182_274200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2188_2206del MANE Select	ENSP00000379258.3:p.Leu730ValfsTer3
ENST00000677288.1:c.2014_2032del	ENSP00000503986.1:p.Leu672ValfsTer3
ENST00000677605.1:c.2188_2206del	ENSP00000503743.1:p.Leu730ValfsTer3
ENST00000678429.1:c.2188_2206del	ENSP00000502957.1:p.Leu730ValfsTer3
ENST00000395925.7:c.2188_2206del	ENSP00000379258.3:p.Leu730ValfsTer3
ENST00000479210.1:n.2165_2183del
NM_000168.5:c.2188_2206del	NP_000159.3:p.Leu730ValfsTer3
XM_005249703.1:c.2188_2206del	XP_005249760.1:p.Leu730ValfsTer3
XM_005249704.2:c.2188_2206del	XP_005249761.1:p.Leu730ValfsTer3
XM_011515272.1:c.2188_2206del	XP_011513574.1:p.Leu730ValfsTer3
XM_011515273.1:c.2188_2206del	XP_011513575.1:p.Leu730ValfsTer3
XM_011515274.1:c.2011_2029del	XP_011513576.1:p.Leu671ValfsTer3
XM_011515274.2:c.2011_2029del	XP_011513576.1:p.Leu671ValfsTer3
XM_017011997.1:c.2185_2203del	XP_016867486.1:p.Leu729ValfsTer3
NM_000168.6:c.2188_2206del MANE Select	NP_000159.3:p.Leu730ValfsTer3