Canonical Allele Identifier: CA2682512072

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048623-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048627del , CM000669.2:g.42048627del	GRCh38
NC_000007.13:g.42088226del , CM000669.1:g.42088226del	GRCh37
NC_000007.12:g.42054751del	NCBI36
NG_008434.1:g.193396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.546del MANE Select	ENSP00000379258.3:p.Thr183LeufsTer?
ENST00000677288.1:c.369del	ENSP00000503986.1:p.Thr124LeufsTer?
ENST00000677605.1:c.546del	ENSP00000503743.1:p.Thr183LeufsTer?
ENST00000678429.1:c.546del	ENSP00000502957.1:p.Thr183LeufsTer?
ENST00000395925.7:c.546del	ENSP00000379258.3:p.Thr183LeufsTer?
ENST00000479210.1:n.523del
NM_000168.5:c.546del	NP_000159.3:p.Thr183LeufsTer?
XM_005249703.1:c.546del	XP_005249760.1:p.Thr183LeufsTer?
XM_005249704.2:c.546del	XP_005249761.1:p.Thr183LeufsTer?
XM_011515272.1:c.546del	XP_011513574.1:p.Thr183LeufsTer?
XM_011515273.1:c.546del	XP_011513575.1:p.Thr183LeufsTer?
XM_011515274.1:c.369del	XP_011513576.1:p.Thr124LeufsTer?
XM_011515274.2:c.369del	XP_011513576.1:p.Thr124LeufsTer?
XM_017011997.1:c.543del	XP_016867486.1:p.Thr182LeufsTer?
NM_000168.6:c.546del MANE Select	NP_000159.3:p.Thr183LeufsTer?