Canonical Allele Identifier: CA2499218886

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1257346
• ClinVar RCV Id: RCV001666496
• dbSNP Id: rs2128705914

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965989_41965990del , CM000669.2:g.41965989_41965990del	GRCh38
NC_000007.13:g.42005587_42005588del , CM000669.1:g.42005587_42005588del	GRCh37
NC_000007.12:g.41972112_41972113del	NCBI36
NG_008434.1:g.276031_276032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3083_3084del MANE Select	ENSP00000379258.3:p.Ser1028LysfsTer?
ENST00000677288.1:c.2909_2910del	ENSP00000503986.1:p.Ser970LysfsTer?
ENST00000677605.1:c.3083_3084del	ENSP00000503743.1:p.Ser1028LysfsTer?
ENST00000678429.1:c.3083_3084del	ENSP00000502957.1:p.Ser1028LysfsTer?
ENST00000395925.7:c.3083_3084del	ENSP00000379258.3:p.Ser1028LysfsTer?
ENST00000479210.1:n.3060_3061del
NM_000168.5:c.3083_3084del	NP_000159.3:p.Ser1028LysfsTer?
XM_005249703.1:c.3083_3084del	XP_005249760.1:p.Ser1028LysfsTer?
XM_005249704.2:c.3083_3084del	XP_005249761.1:p.Ser1028LysfsTer?
XM_011515272.1:c.3083_3084del	XP_011513574.1:p.Ser1028LysfsTer?
XM_011515273.1:c.3083_3084del	XP_011513575.1:p.Ser1028LysfsTer?
XM_011515274.1:c.2906_2907del	XP_011513576.1:p.Ser969LysfsTer?
XM_011515274.2:c.2906_2907del	XP_011513576.1:p.Ser969LysfsTer?
XM_017011997.1:c.3080_3081del	XP_016867486.1:p.Ser1027LysfsTer?
NM_000168.6:c.3083_3084del MANE Select	NP_000159.3:p.Ser1028LysfsTer?