Canonical Allele Identifier: CA838571783

Gene: GLI3

Linked Data

• dbSNP Id: rs1264368765
• MyVariant Identifiers: chr7:g.42003032_42003038del (hg19) ; chr7:g.41963434_41963440del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41963439_41963445del , CM000669.2:g.41963439_41963445del	GRCh38
NC_000007.13:g.42003037_42003043del , CM000669.1:g.42003037_42003043del	GRCh37
NC_000007.12:g.41969562_41969568del	NCBI36
NG_008434.1:g.278581_278587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*890_*896del MANE Select	ENSP00000379258.3:n.*890_*896del
ENST00000677288.1:c.*890_*896del	ENSP00000503986.1:n.*890_*896del
ENST00000677605.1:c.*890_*896del	ENSP00000503743.1:n.*890_*896del
ENST00000678429.1:c.*890_*896del	ENSP00000502957.1:n.*890_*896del
ENST00000395925.7:c.*890_*896del	ENSP00000379258.3:n.*890_*896del
NM_000168.5:c.*890_*896del	NP_000159.3:n.*890_*896del
XM_005249703.1:c.*890_*896del	XP_005249760.1:n.*890_*896del
XM_005249704.2:c.*890_*896del	XP_005249761.1:n.*890_*896del
XM_011515272.1:c.*890_*896del	XP_011513574.1:n.*890_*896del
XM_011515273.1:c.*890_*896del	XP_011513575.1:n.*890_*896del
XM_011515274.1:c.*890_*896del	XP_011513576.1:n.*890_*896del
NM_000168.6:c.*890_*896del MANE Select	NP_000159.3:n.*890_*896del