Canonical Allele Identifier: CA342942

Gene: GLI3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965687_41965688del , CM000669.2:g.41965687_41965688del	GRCh38
NC_000007.13:g.42005285_42005286del , CM000669.1:g.42005285_42005286del	GRCh37
NC_000007.12:g.41971810_41971811del	NCBI36
NG_008434.1:g.276334_276335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3386_3387del MANE Select	ENSP00000379258.3:p.Phe1129Ter
ENST00000677288.1:c.3212_3213del	ENSP00000503986.1:p.Phe1071Ter
ENST00000677605.1:c.3386_3387del	ENSP00000503743.1:p.Phe1129Ter
ENST00000678429.1:c.3386_3387del	ENSP00000502957.1:p.Phe1129Ter
ENST00000395925.7:c.3386_3387del	ENSP00000379258.3:p.Phe1129Ter
ENST00000479210.1:n.3363_3364del
NM_000168.5:c.3386_3387del	NP_000159.3:p.Phe1129Ter
XM_005249703.1:c.3386_3387del	XP_005249760.1:p.Phe1129Ter
XM_005249704.2:c.3386_3387del	XP_005249761.1:p.Phe1129Ter
XM_011515272.1:c.3386_3387del	XP_011513574.1:p.Phe1129Ter
XM_011515273.1:c.3386_3387del	XP_011513575.1:p.Phe1129Ter
XM_011515274.1:c.3209_3210del	XP_011513576.1:p.Phe1070Ter
XM_011515274.2:c.3209_3210del	XP_011513576.1:p.Phe1070Ter
XM_017011997.1:c.3383_3384del	XP_016867486.1:p.Phe1128Ter
NM_000168.6:c.3386_3387del MANE Select	NP_000159.3:p.Phe1129Ter