Canonical Allele Identifier: CA573768388

Gene: GLI3

Linked Data

• dbSNP Id: rs1456618552
• gnomAD v2: 7-42003794-TGAAACACATCTCA-T
• gnomAD v3: 7-41964196-TGAAACACATCTCA-T
• gnomAD v4: 7-41964196-TGAAACACATCTCA-T
• MyVariant Identifiers: chr7:g.42003795_42003807del (hg19) ; chr7:g.41964197_41964209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964198_41964210del , CM000669.2:g.41964198_41964210del	GRCh38
NC_000007.13:g.42003796_42003808del , CM000669.1:g.42003796_42003808del	GRCh37
NC_000007.12:g.41970321_41970333del	NCBI36
NG_008434.1:g.277812_277824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*121_*133del MANE Select	ENSP00000379258.3:n.*121_*133del
ENST00000677288.1:c.*121_*133del	ENSP00000503986.1:n.*121_*133del
ENST00000677605.1:c.*121_*133del	ENSP00000503743.1:n.*121_*133del
ENST00000678429.1:c.*121_*133del	ENSP00000502957.1:n.*121_*133del
ENST00000395925.7:c.*121_*133del	ENSP00000379258.3:n.*121_*133del
ENST00000479210.1:n.4841_4853del
NM_000168.5:c.*121_*133del	NP_000159.3:n.*121_*133del
XM_005249703.1:c.*121_*133del	XP_005249760.1:n.*121_*133del
XM_005249704.2:c.*121_*133del	XP_005249761.1:n.*121_*133del
XM_011515272.1:c.*121_*133del	XP_011513574.1:n.*121_*133del
XM_011515273.1:c.*121_*133del	XP_011513575.1:n.*121_*133del
XM_011515274.1:c.*121_*133del	XP_011513576.1:n.*121_*133del
NM_000168.6:c.*121_*133del MANE Select	NP_000159.3:n.*121_*133del