Canonical Allele Identifier: CA913186019

Gene: GLI3

Linked Data

• ClinVar Variation Id: 13833
• ClinVar RCV Id: RCV000014845
• dbSNP Id: rs1583500982

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040049del , CM000669.2:g.42040049del	GRCh38
NC_000007.13:g.42079648del , CM000669.1:g.42079648del	GRCh37
NC_000007.12:g.42046173del	NCBI36
NG_008434.1:g.201972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1018del MANE Select	ENSP00000379258.3:p.Ser340ValfsTer7
ENST00000677288.1:c.841del	ENSP00000503986.1:p.Ser281ValfsTer7
ENST00000677605.1:c.1018del	ENSP00000503743.1:p.Ser340ValfsTer7
ENST00000678429.1:c.1018del	ENSP00000502957.1:p.Ser340ValfsTer7
ENST00000395925.7:c.1018del	ENSP00000379258.3:p.Ser340ValfsTer7
ENST00000479210.1:n.995del
NM_000168.5:c.1018del	NP_000159.3:p.Ser340ValfsTer7
XM_005249703.1:c.1018del	XP_005249760.1:p.Ser340ValfsTer7
XM_005249704.2:c.1018del	XP_005249761.1:p.Ser340ValfsTer7
XM_011515272.1:c.1018del	XP_011513574.1:p.Ser340ValfsTer7
XM_011515273.1:c.1018del	XP_011513575.1:p.Ser340ValfsTer7
XM_011515274.1:c.841del	XP_011513576.1:p.Ser281ValfsTer7
XM_011515274.2:c.841del	XP_011513576.1:p.Ser281ValfsTer7
XM_017011997.1:c.1015del	XP_016867486.1:p.Ser339ValfsTer7
NM_000168.6:c.1018del MANE Select	NP_000159.3:p.Ser340ValfsTer7