Canonical Allele Identifier: CA838571743

Gene: GLI3

Linked Data

• dbSNP Id: rs1458508104
• gnomAD v3: 7-41963404-TCCC-T
• gnomAD v4: 7-41963404-TCCC-T
• MyVariant Identifiers: chr7:g.42003003_42003005del (hg19) ; chr7:g.41963405_41963407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41963407_41963409del , CM000669.2:g.41963407_41963409del	GRCh38
NC_000007.13:g.42003005_42003007del , CM000669.1:g.42003005_42003007del	GRCh37
NC_000007.12:g.41969530_41969532del	NCBI36
NG_008434.1:g.278614_278616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*923_*925del MANE Select	ENSP00000379258.3:n.*923_*925del
ENST00000677288.1:c.*923_*925del	ENSP00000503986.1:n.*923_*925del
ENST00000677605.1:c.*923_*925del	ENSP00000503743.1:n.*923_*925del
ENST00000678429.1:c.*923_*925del	ENSP00000502957.1:n.*923_*925del
ENST00000395925.7:c.*923_*925del	ENSP00000379258.3:n.*923_*925del
NM_000168.5:c.*923_*925del	NP_000159.3:n.*923_*925del
XM_005249703.1:c.*923_*925del	XP_005249760.1:n.*923_*925del
XM_005249704.2:c.*923_*925del	XP_005249761.1:n.*923_*925del
XM_011515272.1:c.*923_*925del	XP_011513574.1:n.*923_*925del
XM_011515273.1:c.*923_*925del	XP_011513575.1:n.*923_*925del
XM_011515274.1:c.*923_*925del	XP_011513576.1:n.*923_*925del
NM_000168.6:c.*923_*925del MANE Select	NP_000159.3:n.*923_*925del