Canonical Allele Identifier: CA838571644

Gene: GLI3

Linked Data

• dbSNP Id: rs1445600126
• MyVariant Identifiers: chr7:g.42002866_42002869del (hg19) ; chr7:g.41963268_41963271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41963271_41963274del , CM000669.2:g.41963271_41963274del	GRCh38
NC_000007.13:g.42002869_42002872del , CM000669.1:g.42002869_42002872del	GRCh37
NC_000007.12:g.41969394_41969397del	NCBI36
NG_008434.1:g.278750_278753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*1059_*1062del MANE Select	ENSP00000379258.3:n.*1059_*1062del
ENST00000677288.1:c.*1059_*1062del	ENSP00000503986.1:n.*1059_*1062del
ENST00000677605.1:c.*1059_*1062del	ENSP00000503743.1:n.*1059_*1062del
ENST00000678429.1:c.*1059_*1062del	ENSP00000502957.1:n.*1059_*1062del
ENST00000395925.7:c.*1059_*1062del	ENSP00000379258.3:n.*1059_*1062del
NM_000168.5:c.*1059_*1062del	NP_000159.3:n.*1059_*1062del
XM_005249703.1:c.*1059_*1062del	XP_005249760.1:n.*1059_*1062del
XM_005249704.2:c.*1059_*1062del	XP_005249761.1:n.*1059_*1062del
XM_011515272.1:c.*1059_*1062del	XP_011513574.1:n.*1059_*1062del
XM_011515273.1:c.*1059_*1062del	XP_011513575.1:n.*1059_*1062del
XM_011515274.1:c.*1059_*1062del	XP_011513576.1:n.*1059_*1062del
NM_000168.6:c.*1059_*1062del MANE Select	NP_000159.3:n.*1059_*1062del